ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.304G>A (p.Glu102Lys)

gnomAD frequency: 0.00003  dbSNP: rs1286507533
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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 RCV000819628 SCV000960299 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2022-11-01 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DNAJB6-related conditions. ClinVar contains an entry for this variant (Variation ID: 662068). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DNAJB6 protein function. 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 glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 102 of the DNAJB6 protein (p.Glu102Lys).
Revvity Omics, Revvity RCV000819628 SCV003831794 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2021-10-12 criteria provided, single submitter clinical testing

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