ClinVar Miner

Submissions for variant NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp)

gnomAD frequency: 0.00004  dbSNP: rs141007488
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198833 SCV000251337 uncertain significance not provided 2016-12-19 criteria provided, single submitter clinical testing The R61W variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The R61W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is highly conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.
Invitae RCV001087445 SCV001121679 likely benign 3-methylglutaconic aciduria type 5 2023-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258694 SCV003945786 uncertain significance Inborn genetic diseases 2023-05-23 criteria provided, single submitter clinical testing The c.181C>T (p.R61W) alteration is located in exon 4 (coding exon 4) of the DNAJC19 gene. This alteration results from a C to T substitution at nucleotide position 181, causing the arginine (R) at amino acid position 61 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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