ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7157C>G (p.Ala2386Gly)

dbSNP: rs786203697
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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 RCV000459108 SCV000547123 uncertain significance Ataxia-telangiectasia syndrome 2016-11-28 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 2386 of the ATM protein (p.Ala2386Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an ATM-related disease. 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 variant 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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