ClinVar Miner

Submissions for variant NM_000260.3(MYO7A):c.5648G>A (p.Arg1883Gln) (rs111033215)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672100 SCV000797165 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome, type 1 2018-01-16 criteria provided, single submitter clinical testing
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000036199 SCV000891609 likely pathogenic Usher syndrome, type 1 2017-12-30 criteria provided, single submitter curation
GeneDx RCV000413954 SCV000490900 pathogenic not provided 2018-06-22 criteria provided, single submitter clinical testing The R1883Q missense variant in the MYO7A gene has been reported previously in association with Usher syndrome type IB, and has been reported in trans with a pathogenic variant on the opposite allele (in trans) in multiple individuals (Ouyang et al., 2005; Nakanishi et al., 2010; Bonnet et al., 2011; Le Quesne Stabej et al., 2012). The R1883Q variant is observed in 3/34194 (0.009%) alleles from individuals of Latino background in the ExAC dataset (Lek et al., 2016). The R1883Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We classify this variant as pathogenic.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036199 SCV000059851 pathogenic Usher syndrome, type 1 2015-06-18 criteria provided, single submitter clinical testing The p.Arg1883Gln variant in MYO7A has been reported in 6 individuals with Usher syndrome, who all carried a second pathogenic MYO7A variant (Ouyang 2005, Nakanishi 2010, Bonnet 2011, Le Quesne Stabej 2012, Jacobson 2011, LMM unpublished data). In summary, this variant meets our criteria to be classified as pathogenic for Usher syndrome in an autosomal recessive manner.

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