ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) (rs782063761)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel RCV000504967 SCV001164263 uncertain significance Usher syndrome 2019-08-26 reviewed by expert panel curation The p.Ser617Pro variant was present in 0.008716% (2/22946) of South Asian chromosomes in gnomAD, which is a low enough frequency to apply PM2_Supporting based on the thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss (PM2_Supporting; gnomad.broadinstitute.org). This variant has been reported in 1 South Asian proband with Usher syndrome (PP4; PMID: 28041643). This individual was compound heterozygous with a pathogenic variant (VCV000438178.1) which was assumed to be in trans (PM3_Supporting). Of note, this variant was observed in 2 additional probands; however, it was not specified whether or not these individuals presented with phenotypes other than hearing loss (PMID: 27344577, 30303587). Computational prediction tools and conservation analysis suggest that the p.Ser617Pro variant may impact the protein (PP3). In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, PM3_Supporting, PP3, PP4.
Counsyl RCV000670176 SCV000795003 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-10-24 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504967 SCV000599114 likely pathogenic Usher syndrome 2015-01-01 no assertion criteria provided research
National Institute on Deafness and Communication Disorders,National Institutes of Health RCV000681537 SCV000807729 pathogenic Deafness, autosomal recessive 2 2018-07-05 no assertion criteria provided research

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