ClinVar Miner

Submissions for variant NM_000260.3(MYO7A):c.6326C>T (p.Thr2109Ile) (rs377670513)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000591925 SCV000705142 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151522 SCV000199631 likely pathogenic Usher syndrome, type 1 2017-07-25 criteria provided, single submitter clinical testing The p.Thr2109Ile variant in MYO7A has been identified by our laboratory in two unrelated individuals with clinical features of Usher syndrome and segregated in two affected family members. In both families, a second MYO7A variant was identified on the remaining copy of the gene. The age of onset of the retinitis pigmentosa in two siblings was reported to be in the mid to late 30s, which is atypical for classic type 1 Usher syndrome. The two affected siblings in the other family presented hearing loss but no reported vision findings at the age under 5. The p.Thr2109Ile variant has been identified in 8/126680 European chromosomes and 1/24022 African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs377670513); however, its frequency is low enough to be consistent with a recessive carrier frequency. Computational prediction tools and conservation analysis suggest that the p.Thr2109Ile variant may impact the protein. In summary, although additional studies are required to fully establish its clinical significance, the p.Thr2109Ile variant is likely pathogenic.

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