ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2815A>G (p.Thr939Ala) (rs864622606)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206243 SCV000261295 uncertain significance Ataxia-telangiectasia syndrome 2015-10-16 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 939 of the ATM protein (p.Thr939Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. In addition, 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.
Ambry Genetics RCV000575201 SCV000665240 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000575201 SCV000906758 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-24 criteria provided, single submitter clinical testing

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