ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.731G>A (p.Arg244Gln)

dbSNP: rs1353253340
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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 RCV001937981 SCV002178620 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 244 of the DNAJB6 protein (p.Arg244Gln). This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with DNAJB6-related conditions.
Revvity Omics, Revvity RCV001937981 SCV003831804 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2021-04-26 criteria provided, single submitter clinical testing

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