ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8576C>G (p.Ser2859Cys) (rs786203542)

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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 RCV000166899 SCV000217716 uncertain significance Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing
Invitae RCV000553709 SCV000622832 uncertain significance Ataxia-telangiectasia syndrome 2018-07-29 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 2859 of the ATM protein (p.Ser2859Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 187196). 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 rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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