ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.55C>T (p.Arg19Trp)

gnomAD frequency: 0.00004  dbSNP: rs782010351
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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 RCV001926468 SCV002204594 likely benign Dyskeratosis congenita 2024-08-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001926468 SCV003861411 uncertain significance Dyskeratosis congenita 2023-03-07 criteria provided, single submitter clinical testing The p.R19W variant (also known as c.55C>T), located in coding exon 2 of the DKC1 gene, results from a C to T substitution at nucleotide position 55. The arginine at codon 19 is replaced by tryptophan, an amino acid with dissimilar 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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