ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.833A>T (p.Glu278Val)

gnomAD frequency: 0.00004  dbSNP: rs758729708
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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 RCV001224632 SCV001396844 uncertain significance Polyglucosan body myopathy type 1 2022-05-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 278 of the RBCK1 protein (p.Glu278Val). This variant is present in population databases (rs758729708, gnomAD 0.2%). 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: 952510). 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.
GeneDx RCV001760215 SCV001991312 uncertain significance not provided 2019-06-18 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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