ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.1682G>A (p.Arg561His)

gnomAD frequency: 0.00004  dbSNP: rs373690929
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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 RCV001316577 SCV001507206 uncertain significance Dyskeratosis congenita 2022-10-31 criteria provided, single submitter clinical testing This variant is present in population databases (rs373690929, gnomAD 0.08%). 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 not expected to disrupt CTC1 protein function. ClinVar contains an entry for this variant (Variation ID: 1017425). This variant has not been reported in the literature in individuals affected with CTC1-related conditions. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 561 of the CTC1 protein (p.Arg561His).
Centogene AG - the Rare Disease Company RCV001810025 SCV002059742 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2021-04-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898301 SCV004711379 uncertain significance CTC1-related disorder 2024-02-07 criteria provided, single submitter clinical testing The CTC1 c.1682G>A variant is predicted to result in the amino acid substitution p.Arg561His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.083% of alleles in individuals of East Asian descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004609754 SCV005103416 uncertain significance Inborn genetic diseases 2024-04-29 criteria provided, single submitter clinical testing The c.1682G>A (p.R561H) alteration is located in exon 10 (coding exon 10) of the CTC1 gene. This alteration results from a G to A substitution at nucleotide position 1682, causing the arginine (R) at amino acid position 561 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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