ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4091A>G (p.Asp1364Gly) (rs751169467)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233318 SCV000282954 uncertain significance Ataxia-telangiectasia syndrome 2018-10-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 1364 of the ATM protein (p.Asp1364Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs751169467, ExAC 0.009%). This variant has been reported in an individual undergoing testing for suspected Lynch syndrome (PMID: 25980754). ClinVar contains an entry for this variant (Variation ID: 236715). 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000295039 SCV000334766 uncertain significance not provided 2015-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575696 SCV000660497 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-10 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Mendelics RCV000233318 SCV000838534 uncertain significance Ataxia-telangiectasia syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color RCV000575696 SCV000903205 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000233318 SCV001159914 uncertain significance Ataxia-telangiectasia syndrome 2018-09-13 criteria provided, single submitter clinical testing The ATM c.4091A>G; p.Asp1364Gly variant (rs751169467), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 236715). This variant is found on two chromosomes in the Genome Aggregation Database, indicating it is not a common polymorphism. The aspartate at codon 1364 is weakly conserved but computational analyses (SIFT: damaging, PolyPhen-2: tolerated) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Asp1364Gly variant is uncertain at this time.

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