ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6056A>G (p.Tyr2019Cys) (rs876658415)

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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 RCV000216689 SCV000273593 likely pathogenic Hereditary cancer-predisposing syndrome 2015-01-16 criteria provided, single submitter clinical testing
Color RCV000216689 SCV000911956 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-11 criteria provided, single submitter clinical testing
Invitae RCV000543617 SCV000622634 uncertain significance Ataxia-telangiectasia syndrome 2018-11-21 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 2019 of the ATM protein (p.Tyr2019Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in one individual affected with ataxia-telangiectasia (PMID: 19431188, 22649200). ClinVar contains an entry for this variant (Variation ID: 230152). Experimental studies have shown that this missense change abolishes ATM kinase activity (PMID: 19431188). In summary, this variant is a rare missense change with that has been reported to impact protein function. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to conclusively determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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