ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.185A>T (p.Glu62Val)

dbSNP: rs1568554230
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690997 SCV000818732 uncertain significance Polyglucosan body myopathy type 1 2021-02-02 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "C0"). This variant has not been reported in the literature in individuals with RBCK1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with valine at codon 62 of the RBCK1 protein (p.Glu62Val). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and valine. 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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