ClinVar Miner

Submissions for variant NM_138691.3(TMC1):c.936T>G (p.Asn312Lys)

gnomAD frequency: 0.00003  dbSNP: rs148443938
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195466 SCV001365841 likely benign not specified 2019-04-19 criteria provided, single submitter clinical testing The p.Asn312Lys variant in TMC1 is classified as likely benign due to a lack of conservation across species. Four mammals (elephant, Cape elephant shrew, Cape golden mole, and aardvark) carry a lysine (Lys) at this position despite high nearby amino acid conservation. ACMG/AMP Criteria applied: BP4_Strong.
GeneDx RCV001567833 SCV001791596 uncertain significance not provided 2023-01-19 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

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