ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.998C>T (p.Ser333Leu)

gnomAD frequency: 0.00031  dbSNP: rs143194967
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000811400 SCV000951665 uncertain significance Polyglucosan body myopathy type 1 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 333 of the RBCK1 protein (p.Ser333Leu). This variant is present in population databases (rs143194967, 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: 655268). 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.
CeGaT Center for Human Genetics Tuebingen RCV000997729 SCV001153407 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000811400 SCV001190810 uncertain significance Polyglucosan body myopathy type 1 2020-02-05 no assertion criteria provided clinical testing

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