ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3844C>A (p.Leu1282Ile) (rs876660568)

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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 RCV000216470 SCV000278104 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-31 criteria provided, single submitter clinical testing Insufficient or inconclusive evidence
Invitae RCV000540571 SCV000622458 uncertain significance Ataxia-telangiectasia syndrome 2019-06-19 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 1282 of the ATM protein (p.Leu1282Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine. 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. ClinVar contains an entry for this variant (Variation ID: 233679). 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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