ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.1294G>T (p.Val432Leu)

gnomAD frequency: 0.00001  dbSNP: rs949327136
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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 RCV003646882 SCV004510189 likely benign Dyskeratosis congenita 2023-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003646882 SCV005568008 uncertain significance Dyskeratosis congenita 2024-10-12 criteria provided, single submitter clinical testing The c.1294G>T (p.V432L) alteration is located in exon 13 (coding exon 13) of the DKC1 gene. This alteration results from a G to T substitution at nucleotide position 1294, causing the valine (V) at amino acid position 432 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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