ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.775G>A (p.Val259Met) (rs387907080)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798102 SCV000937699 likely pathogenic Dyskeratosis congenita 2018-08-28 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 259 of the CTC1 protein (p.Val259Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs387907080, ExAC 0.02%). This variant has been observed in several individuals affected with Coats plus syndrome, and has been shown to segregate with disease in a family (PMID: 22267198, 29111009). ClinVar contains an entry for this variant (Variation ID: 30998). Experimental studies have shown that this missense change partially impacts functioning of CTC1 protein (PMID: 24115768, 29481669). 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000023989 SCV000809082 pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1 2018-04-09 criteria provided, single submitter clinical testing
OMIM RCV000023989 SCV000045280 pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1 2012-01-22 no assertion criteria provided literature only

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