ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.631G>A (p.Asp211Asn) (rs1555066481)

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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 RCV000564940 SCV000667883 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000686289 SCV000813801 uncertain significance Ataxia-telangiectasia syndrome 2018-06-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 211 of the ATM protein (p.Asp211Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 482566). 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, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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