ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.448G>A (p.Ala150Thr) (rs534560340)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000606120 SCV000732028 uncertain significance not specified 2017-12-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ala150Thr var iant in TMC1 has not been previously reported in individuals with hearing loss, but has been identified in 9/24026 African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs534560340). Comput ational prediction tools and conservation analysis suggest that the p.Ala150Thr variant may not impact the protein, though this information is not predictive en ough to rule out pathogenicity. In summary, while the clinical significance of t he p.Ala150Thr variant is uncertain, these data suggest that it is more likely t o be benign. ACMG/AMP Criteria applied: BP4.

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