ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7457G>A (p.Arg2486Gln) (rs773944604)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226656 SCV000283055 uncertain significance Ataxia-telangiectasia syndrome 2016-01-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 2486 of the ATM protein (p.Arg2486Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency), has not been reported in the literature in individuals with a ATM-related disease, but has been reported as homozygous in an unaffected adult (PMID: 16387360). 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 disruptive, but these predictions have not been confirmed by published functional studies. In summary, this is a rare missense change with uncertain impact on protein function that has been observed in an unaffected individual. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000568839 SCV000665465 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-12 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,Co-occurence with mutation in same gene (phase unknown)

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