ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) (rs111033174)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666360 SCV000790639 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-04-04 criteria provided, single submitter clinical testing
GeneDx RCV000434773 SCV000521010 pathogenic not provided 2018-06-26 criteria provided, single submitter clinical testing The T165M variant has been reported previously in the homozygous state or with another MYO7A variant in multiple individuals with Usher syndrome (Roux et al., 2006; Roux et al., 2011; Rong et al., 2014; Aparisi et al., 2014; Sloan-Heggen et al., 2016; Bonnet et al., 2016). The T165M variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). T165M is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret T165M as a pathogenic variant.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036169 SCV000059821 pathogenic Rare genetic deafness 2012-11-29 criteria provided, single submitter clinical testing The Thr165Met variant in MYO7A has been reported in 4 individuals with Usher syn drome and was absent from 1116 chromosomes (Roux 2011, Gerber 2006, Ouyang 2005, Roux 2006). Three of these individuals were homozygous or compound heterozygous . In addition, this variant was identified in one individual with Usher syndrome by our laboratory who also carried a second pathogenic variant in MYO7A. In su mmary, this variant meets our criteria to be classified as pathogenic (http://pc pgm.partners.org/LMM).

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