ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu) (rs530520654)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666398 SCV000790683 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-04-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155708 SCV000205418 uncertain significance not specified 2013-05-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Gln1699Glu vari ant in MYO7A has not been reported in individuals with hearing loss. Computation al analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhe n2, and SIFT) suggest that the Gln1699Glu variant may not impact the protein, th ough this information is not predictive enough to rule out pathogenicity. In sum mary, the clinical significance of this variant cannot be determined with certai nty; however, based upon the computational data, we lean towards a more likely b enign role.

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