ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6267A>C (p.Lys2089Asn) (rs863224577)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199689 SCV000254130 uncertain significance Ataxia-telangiectasia syndrome 2015-03-29 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 2089 of the ATM protein (p.Lys2089Asn). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and asparagine. 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.
Ambry Genetics RCV000222894 SCV000275899 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence,In silico models in agreement (benign)

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