ClinVar Miner

Submissions for variant NM_001101362.3(KBTBD13):c.64C>G (p.Arg22Gly)

gnomAD frequency: 0.00001  dbSNP: rs1193653136
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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 RCV000639944 SCV000761530 uncertain significance Nemaline myopathy 6 2017-11-20 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 arginine with glycine at codon 22 of the KBTBD13 protein (p.Arg22Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KBTBD13-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356084 SCV001551147 uncertain significance not provided no assertion criteria provided clinical testing

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