ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) (rs111033233)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000215887 SCV000271248 likely pathogenic Rare genetic deafness 2015-08-20 criteria provided, single submitter clinical testing The c.2904G>A (p.Glu968Glu) variant in MYO7A has not been previously reported in individuals with hearing loss, but has been identified in 1/8202 East Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg). Although this variant has been seen in the general population, its frequenc y is low enough to be consistent with a recessive carrier frequency. This varian t is located at the last base of the exon, which is a highly conserved nucleotid e that is part of the 5' splice region. Computational tools predict that this v ariant is likely to impact splicing. In addition, a pathogenic variant affectin g the same nucleotide position (c.2904G>T, p.Glu968Asp) has been reported in 7 i ndividuals with Usher syndrome, including one homozygote and five compound heter ozygotes (Bharadwaj 2000, Ouyang 2005, Jacobson 2008, Le Quesne Stabej 2012, Buj akowska 2014, LMM unpublished data). In summary, although additional studies, s uch as functional analysis, are required to fully establish its clinical signifi cance, this variant is likely pathogenic.
Counsyl RCV000984198 SCV001132255 uncertain significance Usher syndrome type 1 2019-01-24 no assertion criteria provided clinical testing
Counsyl RCV000984287 SCV001132437 uncertain significance Deafness, autosomal recessive 2 2019-01-24 no assertion criteria provided clinical testing

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