ClinVar Miner

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

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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 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.
Counsyl RCV000666398 SCV000790683 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-04-04 criteria provided, single submitter clinical testing
Invitae RCV001219511 SCV001391455 uncertain significance not provided 2019-08-06 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 1699 of the MYO7A protein (p.Gln1699Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. 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. ClinVar contains an entry for this variant (Variation ID: 178932). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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