ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.2611G>A (p.Val871Met)

gnomAD frequency: 0.00007  dbSNP: rs369255297
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001304499 SCV001493782 uncertain significance Dyskeratosis congenita 2021-03-13 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been reported to have conflicting or insufficient data to determine the effect on CTC1 protein function (PMID: 24115768, 29228254, 29481669, 23869908). This variant has been observed in individual(s) with Coats plus syndrome (PMID: 22267198). This variant is also known as V866M in the literature. ClinVar contains an entry for this variant (Variation ID: 30997). This variant is present in population databases (rs369255297, ExAC 0.05%). This sequence change replaces valine with methionine at codon 871 of the CTC1 protein (p.Val871Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine.
OMIM RCV000023988 SCV000045279 pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1 2012-01-22 no assertion criteria provided literature only

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