ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5125C>A (p.Gln1709Lys) (rs1341457041)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568922 SCV000672690 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,Subpopulation frequency in support of benign classification,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Color RCV000568922 SCV000909096 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-06 criteria provided, single submitter clinical testing
Invitae RCV000551955 SCV000622566 uncertain significance Ataxia-telangiectasia syndrome 2018-09-10 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 1709 of the ATM protein (p.Gln1709Lys). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and lysine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an ATM-related disease. 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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