ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7384T>C (p.Phe2462Leu) (rs878853543)

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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 RCV000563658 SCV000660532 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Invitae RCV000231581 SCV000283051 uncertain significance Ataxia-telangiectasia syndrome 2015-12-05 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 2462 of the ATM protein (p.Phe2462Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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