ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.339G>A (p.Met113Ile) (rs397517840)

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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 RCV000041141 SCV000064832 uncertain significance not specified 2018-08-24 criteria provided, single submitter clinical testing The p.Met113Ile variant in TMC1 has been previously reported by our laboratory i n one individual with sensorineural hearing loss and has been identified in 0.00 6% (7/126210) of European chromosomes by the Genome Aggregation Database (gnomAD , http://gnomad.broadinstitute.org). Computational prediction tools and conserva tion analysis do not provide strong support for or against an impact to the prot ein. In summary, the clinical significance of the p.Met113Ile variant is uncerta in. ACMG/AMP Criteria applied: PM2.

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