Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000816021 | SCV000956509 | uncertain significance | Ataxia-telangiectasia syndrome | 2018-08-13 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but 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 ATM-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with arginine at codon 1625 of the ATM protein (p.Lys1625Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. |
| Ambry Genetics | RCV004678844 | SCV005171086 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-05-10 | criteria provided, single submitter | clinical testing | The p.K1625R variant (also known as c.4874A>G), located in coding exon 31 of the ATM gene, results from an A to G substitution at nucleotide position 4874. The lysine at codon 1625 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |