ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2495G>T (p.Arg832Leu) (rs199875915)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572358 SCV000660451 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000572358 SCV000904595 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-24 criteria provided, single submitter clinical testing
Invitae RCV000466846 SCV000546883 uncertain significance Ataxia-telangiectasia syndrome 2018-12-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 832 of the ATM protein (p.Arg832Leu). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is present in population databases (rs199875915, ExAC 0.04%). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 407579). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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.
PreventionGenetics RCV000679103 SCV000805518 uncertain significance not provided 2017-02-17 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000572358 SCV000787853 likely benign Hereditary cancer-predisposing syndrome 2017-11-09 no assertion criteria provided clinical testing

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