ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.64G>A (p.Gly22Arg)

gnomAD frequency: 0.00003  dbSNP: rs546711324
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001889526 SCV002164490 uncertain significance Polyglucosan body myopathy type 1 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 22 of the RBCK1 protein (p.Gly22Arg). This variant is present in population databases (rs546711324, gnomAD 0.003%). 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: 1390342). 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: "Probably Damaging"; 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004793574 SCV005410007 uncertain significance not provided 2023-12-04 criteria provided, single submitter clinical testing PM2_moderate

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