The relationship between SARDH and sarcosinemia (autosomal recessive) was evaluated using the ClinGen Clinical Validity Framework as of 04/18/19. Sarcosinemia is caused by a defect in the conversion of sarcosine to glycine, which is catalyzed by SARDH. The clinical phenotypes of sarcosinemia vary considerably and it has been suggested that it is a benign condition (Bar-joseph et al., 2010). All known variants in SARDH were reported in humans with this disease in 2012 (Bar-joseph et al., 22825317). Evidence supporting this gene-disease relationship includes only one paper with case-level data. In summary, there is limited evidence to support this gene-disease relationship. Although more evidence, both genetic and experimental, is needed to support a causal role, no convincing evidence that contradicts the gene-disease relationship has been found. This classification was approved by the ClinGen Aminoacidopathy Working Group on 06/28/19 (SOP Version 6). It was reevaluated on 10/14/2022 with no new evidence found. As a result of this reevaluation, the classification remained Limited.
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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