ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.1473C>T (p.Phe491=)

gnomAD frequency: 0.00213  dbSNP: rs144016931
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425079 SCV000514620 benign not specified 2015-04-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001083600 SCV000657896 benign Charcot-Marie-Tooth disease type 4 2024-10-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000535933 SCV001145601 likely benign not provided 2018-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392958 SCV002700661 likely benign Inborn genetic diseases 2019-07-11 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 RCV004539782 SCV004766463 benign SH3TC2-related disorder 2019-12-05 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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