ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1009C>A (p.Arg337Ser) (rs138398778)

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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 RCV000215933 SCV000276315 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-10 criteria provided, single submitter clinical testing Insufficient or inconclusive evidence
Invitae RCV001039882 SCV001203432 uncertain significance Ataxia-telangiectasia syndrome 2019-01-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 337 of the ATM protein (p.Arg337Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs138398778, ExAC 0.006%). This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 232238). 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 RCV000215933 SCV001344531 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-24 criteria provided, single submitter clinical testing

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