ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2615C>T (p.Pro872Leu) (rs786202977)

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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 RCV000166072 SCV000216835 uncertain significance Hereditary cancer-predisposing syndrome 2014-10-08 criteria provided, single submitter clinical testing
Invitae RCV000196727 SCV000254071 uncertain significance Ataxia-telangiectasia syndrome 2015-05-01 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 872 of the ATM protein (p.Pro872Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. This variant has not been published in the literature and is not present in population databases. 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 is a novel missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.

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