ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.2800G>A (p.Ala934Thr)

gnomAD frequency: 0.00005  dbSNP: rs369721966
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001209591 SCV001381033 uncertain significance Dyskeratosis congenita 2021-12-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 934 of the CTC1 protein (p.Ala934Thr). This variant is present in population databases (rs369721966, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CTC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 940077). 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 C0"). 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.
GeneDx RCV001760179 SCV001998440 uncertain significance not provided 2019-12-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Genome-Nilou Lab RCV001807393 SCV002055588 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001209591 SCV002531289 uncertain significance Dyskeratosis congenita 2021-12-17 criteria provided, single submitter curation

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