ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.1528A>G (p.Thr510Ala)

gnomAD frequency: 0.00001  dbSNP: rs578120516
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035693 SCV001199027 uncertain significance Dyskeratosis congenita 2023-10-07 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 510 of the CTC1 protein (p.Thr510Ala). This variant is present in population databases (rs578120516, gnomAD 0.06%). 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: 834911). 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 not expected to disrupt CTC1 protein function. 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.
Sema4, Sema4 RCV001035693 SCV002531257 uncertain significance Dyskeratosis congenita 2021-07-29 criteria provided, single submitter curation
GeneDx RCV003153897 SCV003842628 uncertain significance not provided 2022-09-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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