ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8155C>T (p.Arg2719Cys) (rs138526014)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165327 SCV000216050 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000457425 SCV000547025 uncertain significance Ataxia-telangiectasia syndrome 2018-11-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 2719 of the ATM protein (p.Arg2719Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs138526014, ExAC 0.002%). This variant has been reported in the literature in an individual affected with breast cancer (PMID: 25503501). ClinVar contains an entry for this variant (Variation ID: 185832). 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 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.
Color RCV000165327 SCV000682463 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-27 criteria provided, single submitter clinical testing
Counsyl RCV000457425 SCV000799931 uncertain significance Ataxia-telangiectasia syndrome 2018-05-15 criteria provided, single submitter clinical testing

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