ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn) (rs187165412)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151488 SCV000199559 uncertain significance not specified 2013-11-06 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asp576Asn varia nt in MYO7A has not been previously reported in individuals with hearing loss, b ut has been identified in 0.1% (4/4022) of African American chromosomes by the N HLBI Exome Sequencing Project (; dbSNP rs187165 412). Although this variant has been seen in the general population, its frequen cy is not high enough to rule out a pathogenic role. Computational analyses (bi ochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) d o not provide strong support for or against an impact to the protein. In summary , additional information is needed to determine the clinical significance of th is variant..
PreventionGenetics,PreventionGenetics RCV000151488 SCV000303288 benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000666745 SCV000791095 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-04-20 criteria provided, single submitter clinical testing
Invitae RCV001033976 SCV001197300 likely benign not provided 2019-12-28 criteria provided, single submitter clinical testing

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