ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT

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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 RCV001195280 SCV001365589 likely pathogenic Usher syndrome 2019-07-31 criteria provided, single submitter clinical testing The c.1798-7_1800delinsATCGGCTGCT variant in MYO7A has not been previously reported in individuals with Usher syndrome or hearing loss, and was absent from large population studies. This deletion impacts the 3' splice site, and while the exact impact is unknown, it is predicted to cause altered splicing, which would lead to an abnormal or absent protein. Loss of function of the MYO7A gene is an established disease mechanism in autosomal recessive Usher syndrome. 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: PVS1_Strong, PM2
Invitae RCV001243097 SCV001416231 likely pathogenic not provided 2019-02-11 criteria provided, single submitter clinical testing This complex sequence change affects an acceptor splice site in intron 15 of the MYO7A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MYO7A-related conditions. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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