In addition to experimental evidence, there has been 1 report in the literature with an individual harboring a PTPRJ variant (Venkatachalam, 2010; PMID: 21036128). This individual has a 5' duplication of exons 1-11 of PTPRJ, located directly upstream of the wild-type gene. This was assigned 0.5 points for genetic evidence, bringing the total points to 2.0 with a classification of "Limited."
The relationship between PTPRJ and Hereditary Nonpolyposis Colon Cancer (autosomal dominant) was evaluated using the ClinGen Clinical Validity Framework as of 10-9-2018 (SOP Version 6.0). Variants in PTPRJ were first reported in humans with this disease as early as 2010 (Venkatachalam et al). At least 1 variant (multi exon duplication) has been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data.
Summary of Case Level Data: 0.5 Points. A multi-exon duplication in this gene has been reported in at least 1 proband.
Experimental Evidence: 1.5 Points. This gene-disease association is supported by biochemical function.
In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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