ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.1681C>A (p.Arg561Ser)

dbSNP: rs202212634
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634483 SCV000755799 uncertain significance Dyskeratosis congenita 2023-05-08 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 529174). This variant has not been reported in the literature in individuals affected with CTC1-related conditions. This variant is present in population databases (rs202212634, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 561 of the CTC1 protein (p.Arg561Ser). 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.
Ambry Genetics RCV002533193 SCV003758290 uncertain significance Inborn genetic diseases 2022-07-26 criteria provided, single submitter clinical testing The c.1681C>A (p.R561S) alteration is located in exon 10 (coding exon 10) of the CTC1 gene. This alteration results from a C to A substitution at nucleotide position 1681, causing the arginine (R) at amino acid position 561 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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