ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5474A>C (p.Gln1825Pro) (rs587782655)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132070 SCV000187133 uncertain significance Hereditary cancer-predisposing syndrome 2014-04-11 criteria provided, single submitter clinical testing
Invitae RCV000556681 SCV000622592 uncertain significance Ataxia-telangiectasia syndrome 2018-09-10 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 1825 of the ATM protein (p.Gln1825Pro). The glutamine residue is weakly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 142703). 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 rare 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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