ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) (rs202245413)

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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 RCV000036149 SCV000059801 uncertain significance not specified 2018-03-06 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg150Gln var iant in MYO7A has been previously identified by our laboratory in 3 individuals with hearing loss, none of whom carried a variant on the other copy of MYO7A. Fu rthermore, one of these individuals had a variant in a different gene that was s ufficient to explain their hearing loss. This variant has also been identified i n 0.05% (65/126624) of European chromosomes by the Genome Aggregation Database ( gnomAD, http://gnomad.broadinstitute.org; dbSNP rs202245413). Although this vari ant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation ana lysis suggest that the variant may not impact the protein, though this informati on is not predictive enough to rule out pathogenicity. In summary, while the cli nical significance of the p.Arg150Gln variant is uncertain, these data suggest t hat it is more likely to be benign. ACMG/AMP Criteria applied: BP4.
Fulgent Genetics,Fulgent Genetics RCV000765012 SCV000896196 uncertain significance Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome, type 1 2018-10-31 criteria provided, single submitter clinical testing

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