ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1473C>G (p.Pro491=)

gnomAD frequency: 0.00071  dbSNP: rs370427146
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189675 SCV000243321 benign not specified 2014-08-11 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 RCV001086466 SCV000654196 benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2024-01-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000729449 SCV000857115 uncertain significance not provided 2017-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390501 SCV002697994 likely benign Inborn genetic diseases 2019-09-17 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.

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