Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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). |