ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp) (rs771646414)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557514 SCV000631340 uncertain significance Dyskeratosis congenita 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with tryptophan at codon 923 of the CTC1 protein (p.Gly923Trp). The glycine residue is moderately conserved and there is a large physicochemical difference between glycine and tryptophan. This variant is present in population databases (rs771646414, ExAC 0.03%). This variant has not been reported in the literature in individuals with CTC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 459599). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Fulgent Genetics,Fulgent Genetics RCV000764153 SCV000895150 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2018-10-31 criteria provided, single submitter clinical testing

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