ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7865C>T (p.Ala2622Val) (rs766351395)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521492 SCV000617375 pathogenic not provided 2017-09-06 criteria provided, single submitter clinical testing The c.7865C>T variant in the ATM gene, also referred to as Ala2622Val in the literature, has been observed in the compound heterozygous and homozygous state in multiple individuals with ataxia telangiectasia (Teraoka et al., 1999; Heinrich et al., 2006; Du et al., 2008; Aghamohammadi et al., 2010). This variant creates a new cryptic splice donor site and is predicted to cause abnormal gene splicing, with functional studies demonstrating that this variant results in the deletion of 64 nucleotides from exon 53, also reported as exon 55 using alternate nomenclature, and that no wild type transcript is produced from alleles with this variant (Bullrich et al., 1999; Teraoka et al., 1999; Du et al., 2007). This variant is not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek et al., 2016). The nucleotide which is altered, a cytosine at base 7865, is conserved through mammals. We interpret c.7865C>T as a pathogenic variant.

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