ClinVar Miner

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

gnomAD frequency: 0.00043  dbSNP: rs187165412
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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 (http://evs.gs.washington.edu/EVS/; 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, part of Exact Sciences RCV000151488 SCV000303288 benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000666745 SCV000791095 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001033976 SCV001197300 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001033976 SCV005080948 uncertain significance not provided 2023-12-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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