ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.935C>G (p.Thr312Ser)

gnomAD frequency: 0.00016  dbSNP: rs377023815
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002037320 SCV002115423 likely benign not provided 2023-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003164003 SCV003884026 likely benign Inborn genetic diseases 2023-01-10 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 RCV004738397 SCV005361160 uncertain significance DEAF1-related disorder 2024-05-22 no assertion criteria provided clinical testing The DEAF1 c.935C>G variant is predicted to result in the amino acid substitution p.Thr312Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.036% of alleles in individuals of African descent in gnomAD. This variant is interpreted as likely benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/1345478/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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