ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6107A>G (p.Tyr2036Cys) (rs786204141)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168120 SCV000218777 uncertain significance Ataxia-telangiectasia syndrome 2014-10-31 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 2036 of the ATM protein (p.Tyr2036Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. 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, PolyPhen-2, 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 missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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