ClinVar Miner

Submissions for variant NM_000260.3(MYO7A):c.1556delG (p.Gly519Alafs) (rs606231379)

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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 RCV000036056 SCV000059708 pathogenic Rare genetic deafness 2010-04-08 criteria provided, single submitter clinical testing The Gly519fs variant has not been reported in the literature nor previously iden tified by our laboratory. However, this variant is predicted to cause a frameshi ft, which alters the protein's amino acid sequence beginning at codon 519 and le ads to a premature stop codon 10 codons downstream. This alteration is then pred icted to lead to a truncated or absent protein. In summary, this variant is high ly likely to be pathogenic.

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