ClinVar Miner

Submissions for variant NC_000011.10:g.77212953A>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825405 SCV000966702 uncertain significance not specified 2019-02-15 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Gln2119Pr o variant in MYO7A has been reported by our laboratory in 1 individual with hear ing loss who was compound heterozygous for a second pathogenic MYO7A variant. Th is variant was absent from large population studies. Computational prediction to ols and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, while there is some suspicion for a pathogenic role, the clinical signi ficance of the p.Gln2119Pro variant is uncertain. ACMG/AMP Criteria applied: PM2 , PM3, PP3.

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