ClinVar Miner

Submissions for variant NM_138691.3(TMC1):c.2030T>C (p.Ile677Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003037327 SCV003440794 pathogenic not provided 2023-10-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 677 of the TMC1 protein (p.Ile677Thr). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individuals with autosomal recessive nonsyndromic deafness (PMID: 19187973, 25423259). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2136778). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TMC1 protein function. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005045190 SCV005679373 likely pathogenic Autosomal recessive nonsyndromic hearing loss 7; Autosomal dominant nonsyndromic hearing loss 36 2024-02-29 criteria provided, single submitter clinical testing

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