ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.532G>A

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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 RCV000825470 SCV000966771 uncertain significance not specified 2018-10-10 criteria provided, single submitter clinical testing The p.Glu178Lys variant in TMC1 has not been previously reported in individuals with hearing loss and was absent from large population studies. Another missense variant at the same amino acid position (p.Glu178Asp) has been reported in the homozygous state in an individual with hearing loss (Atik 2015), suggesting chan ges at this position may not be tolerated. Computational prediction tools and co nservation analysis do not provide strong support for or against an impact to th e protein. In summary, the clinical significance of this variant is uncertain. A CMG/AMP Criteria applied: PM2.

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