ClinVar Miner

Submissions for variant NM_001378211.1(SHOC1):c.1774C>T (p.Arg592Ter)

gnomAD frequency: 0.00003  dbSNP: rs1004968910
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV002261463 SCV002540778 pathogenic Spermatogenic failure 75 2022-07-06 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004758882 SCV005343224 likely pathogenic SHOC1-related condition 2024-03-04 no assertion criteria provided clinical testing The SHOC1 c.1582C>T variant is predicted to result in premature protein termination (p.Arg528*). This variant was reported in the compound heterozygous state with a second premature termination variant in two siblings with azoospermia (Yao et al. 2021. PubMed ID: 32900840). This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. Nonsense variants in SHOC1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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