ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3248C>T (p.Thr1083Ile)

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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 RCV001195591 SCV001365987 likely pathogenic CHARGE association 2019-12-06 criteria provided, single submitter clinical testing The p.Thr1083Ile variant in CHD7 has been identified de novo in 1 individual with hearing loss by our laboratory and was absent from large population studies. Computational prediction tools and conservation analysis suggest an impact to the protein. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant CHD7-related disorders. ACMG/AMP Criteria applied: PS2, PM2, PP3.

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