ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) (rs200641606)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000585012 SCV000884213 uncertain significance not provided 2017-09-16 criteria provided, single submitter clinical testing The p.Gln962His variant (rs200641606) has been reported in one individual with a clinical diagnosis of Usher syndrome (Le Quesne Stabej 2012); however, inheritance and specific clinical information were not reported for this individual. The p.Gln962His variant is listed in the Genome Aggregation Database (gnomAD) browser with an overall allele frequency of 0.068% (identified in 187 out of 276,178 chromosomes; 0 homozygotes), and is classified as a variant of uncertain significance in ClinVar (Variant ID: 43194). The glutamine at codon 962 is moderately conserved considering 13 species (Alamut software v2.9.0), and computational analyses suggest that this variant affects the MYO7A protein structure/function (SIFT: damaging, PolyPhen2: possibly damaging, MutationTaster: disease causing). However, based on the available information, the clinical significance of the p.Gln962His variant cannot be determined with certainty.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585012 SCV000692720 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000585012 SCV000227997 uncertain significance not provided 2014-12-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036098 SCV000059750 likely benign not specified 2016-06-09 criteria provided, single submitter clinical testing p.Gln962His in exon 23 of MYO7A: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (39/15796) of South Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs200641606). Although this variant has been reported in two individu als with hearing loss, in one individual two other pathogenic or likely pathogen ic variants were identified (LeQuesne Stabej 2012), and in the other individual a variant affecting the remaining copy of MYO7A was not identified. Therefore, given the frequency of this variant, it is likely benign.

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