ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) (rs111033347)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000844720 SCV000059779 pathogenic Rare genetic deafness 2011-07-26 criteria provided, single submitter clinical testing The Lys1255fs variant in MYO7A has been reported in two probands with Usher synd rome who were each compound heterozygous with a second pathogenic MYO7A variant (Roux 2011, Jaijo 2007). In addition, the Lys1255fs variant is predicted to caus e a frameshift, which alters the protein's amino acid sequence beginning at codo n 1255 and leads to a premature stop codon 8 codons downstream. This alteration is then predicted to lead to a truncated or absent protein. In summary, this var iant meets our criteria to be classified as pathogenic.
Counsyl RCV000036127 SCV000487456 likely pathogenic Usher syndrome, type 1 2016-11-02 criteria provided, single submitter clinical testing
Counsyl RCV000412422 SCV000487457 likely pathogenic Deafness, autosomal recessive 2 2016-11-02 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505077 SCV000599123 pathogenic Usher syndrome 2015-01-01 no assertion criteria provided research

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