ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6845A>G (p.Asn2282Ser) (rs863224579)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567702 SCV000660524 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Color RCV000567702 SCV000682369 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-08 criteria provided, single submitter clinical testing
Invitae RCV000200616 SCV000254136 uncertain significance Ataxia-telangiectasia syndrome 2017-05-25 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 2282 of the ATM protein (p.Asn2282Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 216228). 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 and their clinical significance is uncertain. In summary, this variant has uncertain impact on ATM function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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