ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs) (rs397516304)

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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 RCV000036123 SCV000059775 pathogenic Rare genetic deafness 2010-08-13 criteria provided, single submitter clinical testing The Pro1244fs variant in MYO7A has not been reported in the literature nor previ ously identified by our laboratory. However, this variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1244 and leads to a premature stop codon 64 codons downstream. This alteration i s then predicted to lead to a truncated or absent protein. In summary, this vari ant meets our criteria to be classified as pathogenic.

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