Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000698304 | SCV000826963 | uncertain significance | Dyskeratosis congenita | 2018-06-09 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CTC1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 710 of the CTC1 protein (p.Ala710Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. |
Godley laboratory, |
RCV001172448 | SCV001250900 | uncertain significance | Cerebroretinal microangiopathy with calcifications and cysts 1 | 2020-05-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001172448 | SCV002055598 | uncertain significance | Cerebroretinal microangiopathy with calcifications and cysts 1 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002533519 | SCV003649237 | uncertain significance | Inborn genetic diseases | 2022-10-25 | criteria provided, single submitter | clinical testing | The c.2128G>A (p.A710T) alteration is located in exon 13 (coding exon 13) of the CTC1 gene. This alteration results from a G to A substitution at nucleotide position 2128, causing the alanine (A) at amino acid position 710 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |