ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1583T>G (p.Leu528Arg) (rs797044492)

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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 RCV000151486 SCV000199557 likely pathogenic Usher syndrome 2019-05-09 criteria provided, single submitter clinical testing The p.Leu528Arg variant in MYO7A has been identified by our laboratory in the homozygous state in 1 Lebanese individual with clinical features consistent with type 1 Usher syndrome (congenital profound sensorineural hearing loss, delayed walking, generalized retinal degeneration and night blindness). Both parents were heterozygous for the variant and the variant segregated in the homozygous state in an affected sibling. This variant was absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive Usher syndrome. ACMG/AMP criteria applied: PM2, PP1, PP3, PP4, PM3_Supporting.

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