ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp) (rs202138550)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533706 SCV000631341 pathogenic Dyskeratosis congenita 2019-07-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 987 of the CTC1 protein (p.Arg987Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs202138550, ExAC 0.01%). This variant has been reported in compound heterozygous individuals affected with Coats plus syndrome (PMID: 22899577, 22267198). ClinVar contains an entry for this variant (Variation ID: 30996). Experimental studies have shown that this missense change caused reduced binding of CTC1 to telomeric single-stranded DNA, and mislocalized protein in the cytoplasm (PMID: 24115768, 23869908). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000023987 SCV000045278 pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1 2012-01-22 no assertion criteria provided literature only

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