ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.5851del (p.Ser1951fs)

dbSNP: rs727504995
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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, Mass General Brigham Personalized Medicine RCV000156414 SCV000206132 pathogenic Nonsyndromic genetic hearing loss; Rare genetic deafness 2014-03-04 criteria provided, single submitter clinical testing The Ser1951fs variant in MYO15A has not been previously reported in individuals or in large population studies. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1951 and lead s to a premature stop codon 3 codons downstream. This alteration is then predict ed to lead to a truncated or absent protein. In summary, this variant meets our criteria for pathogenicity (http://pcpgm.partners.org/LMM).

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