ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.142C>G (p.Gln48Glu)

dbSNP: rs1799691943
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001237734 SCV001410508 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2022-06-04 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 963673). This variant has not been reported in the literature in individuals affected with DNAJB6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 48 of the DNAJB6 protein (p.Gln48Glu).

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