ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.869G>C (p.Gly290Ala)

gnomAD frequency: 0.00005  dbSNP: rs765439077
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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 RCV000800570 SCV000940296 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2024-10-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 290 of the DNAJB6 protein (p.Gly290Ala). This variant is present in population databases (rs765439077, gnomAD 0.03%). 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: 646310). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt DNAJB6 protein function with a negative predictive value of 80%. 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.
GeneDx RCV002462156 SCV002756797 uncertain significance not provided 2022-05-18 criteria provided, single submitter clinical testing Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004972965 SCV005578285 uncertain significance Inborn genetic diseases 2024-09-04 criteria provided, single submitter clinical testing The c.869G>C (p.G290A) alteration is located in exon 9 (coding exon 8) of the DNAJB6 gene. This alteration results from a G to C substitution at nucleotide position 869, causing the glycine (G) at amino acid position 290 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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