ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7184A>T (p.Asp2395Val) (rs1555122090)

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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 RCV000571230 SCV000672693 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000764941 SCV000896113 uncertain significance Familial cancer of breast; Ataxia-telangiectasia syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000802048 SCV000941859 uncertain significance Ataxia-telangiectasia syndrome 2018-09-20 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 2395 of the ATM protein (p.Asp2395Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals in the literature (PMID: 25040471). ClinVar contains an entry for this variant (Variation ID: 485217). Experimental studies have shown that this missense change results in reduced expression of the ATM protein and a low level of the kinase activity (PMID: 25040471, 22952040). 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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