ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8100A>T (p.Lys2700Asn) (rs778601472)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205684 SCV000260713 uncertain significance Ataxia-telangiectasia syndrome 2015-09-19 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 2700 of the ATM protein (p.Lys2700Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant was reported in an individual affected with Ataxia-Telangiectasia as present in trans with a pathogenic variant in ATM (PMID: 12815592). 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 novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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