ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1401_1403dup (p.His468_Val469insGln) (rs111033219)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036049 SCV000059701 uncertain significance not specified 2018-04-05 criteria provided, single submitter clinical testing The p.Arg467_His468insGln variant in MYO7A has been reported in the heterozygous state in 2 individuals with Usher syndrome type 1 (Weston 1996). This variant w as absent from large population studies, though the ability of these studies to accurately detect indels may be limited. This variant is an insertion of 1 amino acid at position 467 and is not predicted to alter the protein reading-frame. I t is unclear if this insertion will impact the protein. In summary, the clinical significance of the p.Arg467_His468insGln variant is uncertain. ACMG/AMP Criter ia applied: PM2; PM4_Supporting.
Counsyl RCV000675070 SCV000800547 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-06-19 criteria provided, single submitter clinical testing

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