ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.1240G>T (p.Gly414Trp)

gnomAD frequency: 0.00003  dbSNP: rs375293707
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695677 SCV000824191 uncertain significance Dyskeratosis congenita 2022-11-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CTC1-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CTC1 protein function. ClinVar contains an entry for this variant (Variation ID: 573891). This variant is present in population databases (rs375293707, gnomAD 0.02%). This sequence change replaces glycine, which is neutral and non-polar, with tryptophan, which is neutral and slightly polar, at codon 414 of the CTC1 protein (p.Gly414Trp).
Ambry Genetics RCV002532319 SCV003579368 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.1240G>T (p.G414W) alteration is located in exon 8 (coding exon 8) of the CTC1 gene. This alteration results from a G to T substitution at nucleotide position 1240, causing the glycine (G) at amino acid position 414 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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