ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.566G>A (p.Arg189Lys) (rs79075295)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132506 SCV000187602 benign Hereditary cancer-predisposing syndrome 2014-12-26 criteria provided, single submitter clinical testing
Invitae RCV000167954 SCV000218602 uncertain significance Ataxia-telangiectasia syndrome 2014-09-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 189 of the ATM protein (p.Arg189Lys). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and lysine. This sequence change 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, MutationTaster, Align-GVGD) all suggest that this sequence change is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this is a novel sequence change with no published reports and although it is predicted to disrupt protein function, there is no experimental evidence to support this prediction. For these reasons, this change has been classified as a Variant of Uncertain Significance.

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