ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.463C>A (p.Leu155Met)

dbSNP: rs2016220877
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220373 SCV001392359 uncertain significance Polyglucosan body myopathy type 1 2022-02-05 criteria provided, single submitter clinical testing 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. This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 155 of the RBCK1 protein (p.Leu155Met). This variant is not present in population databases (gnomAD no frequency). 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: 949002). 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: "Possibly Damaging"; Align-GVGD: "Not Available").

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