ClinVar Miner

Submissions for variant NM_017654.4(SAMD9):c.2374G>A (p.Val792Ile)

gnomAD frequency: 0.00031  dbSNP: rs147587391
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001325704 SCV001516707 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820016 SCV002064941 likely benign not specified 2018-11-26 criteria provided, single submitter clinical testing
GeneDx RCV001325704 SCV002578645 uncertain significance not provided 2023-07-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28545555)
Ambry Genetics RCV002546138 SCV003758158 likely benign Inborn genetic diseases 2021-10-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004548168 SCV004762823 likely benign SAMD9-related disorder 2020-04-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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