Submission Details

Submitter:

Classification:
Moderate
GENCC:100003
Gene:
Disease:
male infertility with azoospermia or oligozoospermia due to single gene mutation
Mode Of Inheritance:
Autosomal recessive
Evaluated Date:
03/06/2021
Evidence/Notes:
Alhathal et al., 2020 (PMID: 32719396) reported a missense variant in a large male infertility cohort (n=285 infertile man and case–control fertile man). Gene is scored according to ClinGen classification. Moderate based on, reported in male infertility (PMID: 28548327). Animal model (Spag17tm1b(KOMP)Wtsi). Expression (PMID:15827353)/ (>1 independent study with several unrelated probands with pathogenic variants, supporting experimental data and no contradictory evidences).
PubMed IDs:
32719396
Public Report:
Assertion Criteria:
Submitter Submitted Date:
03/06/2021

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