ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.938G>A (p.Arg313Lys)

gnomAD frequency: 0.00002  dbSNP: rs763185312
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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 RCV001405520 SCV001607447 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2022-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258908 SCV003948490 uncertain significance Inborn genetic diseases 2023-04-17 criteria provided, single submitter clinical testing The c.938G>A (p.R313K) alteration is located in exon 10 (coding exon 9) of the DNAJB6 gene. This alteration results from a G to A substitution at nucleotide position 938, causing the arginine (R) at amino acid position 313 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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