ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.109_111del (p.Leu37del) (rs137854489)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634495 SCV000755811 likely pathogenic Dyskeratosis congenita 2018-08-10 criteria provided, single submitter clinical testing This variant, c.109_111delCTT, results in the deletion of 1 amino acid of the DKC1 protein (p.Leu37del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with dyskeratosis congenita (PMID: 9590285, Invitae). ClinVar contains an entry for this variant (Variation ID: 11583). Experimental studies have shown that this in-frame deletion results in compromised telomere maintenance, characterized by shortened telomeres and reduced telomerase activity (PMID: 22058290, 23660516, 21602826, 25992652). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000012339 SCV000032573 pathogenic Dyskeratosis congenita, X-linked 1998-05-01 no assertion criteria provided literature only
GeneReviews RCV000012339 SCV000055771 pathologic Dyskeratosis congenita, X-linked 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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