ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.815C>T (p.Ala272Val)

gnomAD frequency: 0.00006  dbSNP: rs978425267
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440418 SCV000516594 likely benign not specified 2015-04-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000806872 SCV000946891 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2023-09-22 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 272 of the DNAJB6 protein (p.Ala272Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 379481). 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 not 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.
Ambry Genetics RCV003168638 SCV003870935 uncertain significance Inborn genetic diseases 2023-02-06 criteria provided, single submitter clinical testing The c.815C>T (p.A272V) alteration is located in exon 9 (coding exon 8) of the DNAJB6 gene. This alteration results from a C to T substitution at nucleotide position 815, causing the alanine (A) at amino acid position 272 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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