ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6203T>C (p.Leu2068Ser) (rs1555114558)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000579619 SCV000682313 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000779043 SCV000915498 uncertain significance Ataxia-telangiectasia syndrome 2019-01-03 criteria provided, single submitter clinical testing The ATM c.6203T>C (p.Leu2068Ser) missense variant has been reported in two studies in which it is found in a compound heterozygous state in two individuals with ataxia-telangiectasia (Anheim et al. 2010; Carranza et al. 2017). Control data are unavailable for this variant. The p.Leu2068Ser variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium, or the Genome Aggregation Database. Based on the evidence, the p.Leu2068Ser variant is classified as a variant of unknown significance but suspicious for pathogenicity for ataxia-telangiectasia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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