ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1901G>A (p.Arg634Gln) (rs781812509)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988604 SCV001138383 uncertain significance Deafness, autosomal recessive 2 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000994686 SCV001148373 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001195389 SCV001365738 uncertain significance not specified 2019-11-06 criteria provided, single submitter clinical testing The p.Arg634Gln variant in MYO7A has been previously reported in an individual with moderate hearing loss who had a truncating MYO7A variant confirmed in trans (He 2018). This variant has been identified in 0.01% (1/8036) in African chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied: PM3, PM2_Supporting, PP3.

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