ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6757A>C (p.Lys2253Gln) (rs863224578)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198750 SCV000254135 uncertain significance Ataxia-telangiectasia syndrome 2015-03-02 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 2253 of the ATM protein (p.Lys2253Gln). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamine. 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 with uncertain impact on protein function. Although there is no indication that this variant causes disease, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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