ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7985T>A (p.Val2662Asp) (rs863224463)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000200768 SCV000797315 likely pathogenic Ataxia-telangiectasia syndrome 2018-01-22 criteria provided, single submitter clinical testing
Invitae RCV000200768 SCV000253747 pathogenic Ataxia-telangiectasia syndrome 2017-05-22 criteria provided, single submitter clinical testing This sequence change replaces valine with aspartic acid at codon 2662 of the ATM protein (p.Val2662Asp). The valine residue is highly conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported as homozygous in several individuals affected with ataxia telangiectasia (PMID: 22071889, 23322442). It has also been reported to segregate with ataxia telangiectasia in a single family (PMID: 23142947). ClinVar contains an entry for this variant (Variation ID: 216025). Experimental studies have shown that this missense change decreases protein levels and leads to mislocalization of the ATM protein in cell culture (PMID: 22071889). For these reasons, this variant has been classified as Pathogenic.

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