ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) (rs201178011)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000217051 SCV000272148 uncertain significance not specified 2015-12-08 criteria provided, single submitter clinical testing The p.Arg669Gln variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome. This variant has been identified in 6/104 66 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro; dbSNP rs201178011). Computational prediction tools and conserva tion analysis do not provide strong support for or against an impact to the prot ein. In summary, the clinical significance of the p.Arg669Gln variant is uncerta in.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726877 SCV000703787 uncertain significance not provided 2016-12-08 criteria provided, single submitter clinical testing
Counsyl RCV000665596 SCV000789743 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-02-21 criteria provided, single submitter clinical testing
Invitae RCV000726877 SCV001230062 uncertain significance not provided 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 669 of the MYO7A protein (p.Arg669Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs201178011, ExAC 0.06%). This variant has not been reported in the literature in individuals with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 229001). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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