ClinVar Miner

Submissions for variant NM_014908.4(DOLK):c.380T>C (p.Val127Ala)

gnomAD frequency: 0.00003  dbSNP: rs201629680
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001414429 SCV001616566 likely benign DK1-congenital disorder of glycosylation 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001773747 SCV001993644 uncertain significance not provided 2019-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038114 SCV005026259 uncertain significance Cardiovascular phenotype 2023-10-23 criteria provided, single submitter clinical testing The p.V127A variant (also known as c.380T>C), located in coding exon 1 of the DOLK gene, results from a T to C substitution at nucleotide position 380. The valine at codon 127 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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