ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.928C>A (p.Gln310Lys)

gnomAD frequency: 0.00004  dbSNP: rs765886234
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000381059 SCV000338695 uncertain significance not provided 2017-09-07 criteria provided, single submitter clinical testing
GeneDx RCV000381059 SCV001796664 uncertain significance not provided 2020-01-18 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001855153 SCV002316766 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2024-11-19 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 310 of the DNAJB6 protein (p.Gln310Lys). This variant is present in population databases (rs765886234, gnomAD 0.009%). 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: 285593). 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 95%. 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.
Ambry Genetics RCV004619244 SCV005119322 uncertain significance Inborn genetic diseases 2024-03-15 criteria provided, single submitter clinical testing The c.928C>A (p.Q310K) alteration is located in exon 10 (coding exon 9) of the DNAJB6 gene. This alteration results from a C to A substitution at nucleotide position 928, causing the glutamine (Q) at amino acid position 310 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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