ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.622G>A (p.Asp208Asn)

gnomAD frequency: 0.00013  dbSNP: rs374771308
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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 RCV000687325 SCV000814888 benign Dyskeratosis congenita 2024-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000687325 SCV003680369 uncertain significance Dyskeratosis congenita 2022-07-08 criteria provided, single submitter clinical testing The c.622G>A (p.D208N) alteration is located in exon 7 (coding exon 7) of the DKC1 gene. This alteration results from a G to A substitution at nucleotide position 622, causing the aspartic acid (D) at amino acid position 208 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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