ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3457G>C (p.Val1153Leu)

dbSNP: rs863224562
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000195556 SCV000254085 uncertain significance Ataxia-telangiectasia syndrome 2015-05-26 criteria provided, single submitter clinical testing 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. This sequence change replaces valine with leucine at codon 1153 of the ATM protein (p.Val1153Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine.

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