ClinVar Miner

Submissions for variant NM_138691.3(TMC1):c.1622T>C (p.Ile541Thr)

gnomAD frequency: 0.00008  dbSNP: rs201955337
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000312108 SCV000340849 uncertain significance not provided 2016-05-03 criteria provided, single submitter clinical testing
GeneDx RCV000312108 SCV005687993 uncertain significance not provided 2024-08-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004734936 SCV005352345 likely benign TMC1-related disorder 2024-08-11 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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