ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.494G>C (p.Gly165Ala)

gnomAD frequency: 0.00007  dbSNP: rs782622660
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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 RCV001944886 SCV002132590 likely benign Dyskeratosis congenita 2024-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001944886 SCV004070544 uncertain significance Dyskeratosis congenita 2023-08-02 criteria provided, single submitter clinical testing The c.494G>C (p.G165A) alteration is located in exon 6 (coding exon 6) of the DKC1 gene. This alteration results from a G to C substitution at nucleotide position 494, causing the glycine (G) at amino acid position 165 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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