ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.1225C>T (p.Pro409Ser)

dbSNP: rs2148516431
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052166 SCV002318686 uncertain significance Dyskeratosis congenita, X-linked 2022-03-22 criteria provided, single submitter clinical testing Different pathogenic/likely pathogenic amino acid change has been reported with supporting evidence at the same codon (PMID:23946118,15304085). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.716>=0.6). A missense variant is a common mechanism . It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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