ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.203C>T (p.Thr68Ile)

gnomAD frequency: 0.00001  dbSNP: rs753472058
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652303 SCV000774171 uncertain significance Polyglucosan body myopathy type 1 2022-05-25 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 68 of the RBCK1 protein (p.Thr68Ile). This variant is present in population databases (rs753472058, 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: 541948). 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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