ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.331C>G (p.Gln111Glu)

gnomAD frequency: 0.00005  dbSNP: rs746197240
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001338655 SCV001532341 uncertain significance Polyglucosan body myopathy type 1 2021-10-05 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 111 of the RBCK1 protein (p.Gln111Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs746197240, ExAC 0.005%). This variant has not been reported in the literature in individuals affected with RBCK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1035745). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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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