ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.404G>A (p.Arg135Gln)

gnomAD frequency: 0.00004  dbSNP: rs772121051
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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 RCV000809001 SCV000949135 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2022-06-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000809001 SCV003831805 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2020-06-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258985 SCV003981924 uncertain significance Inborn genetic diseases 2023-05-17 criteria provided, single submitter clinical testing The c.404G>A (p.R135Q) alteration is located in exon 6 (coding exon 5) of the DNAJB6 gene. This alteration results from a G to A substitution at nucleotide position 404, causing the arginine (R) at amino acid position 135 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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