ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8185C>T (p.Gln2729Ter) (rs587781967)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130347 SCV000185198 pathogenic Hereditary cancer-predisposing syndrome 2018-10-09 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Counsyl RCV000410300 SCV000486531 likely pathogenic Ataxia-telangiectasia syndrome 2016-06-23 criteria provided, single submitter clinical testing
GeneDx RCV000657613 SCV000779355 pathogenic not provided 2016-07-07 criteria provided, single submitter clinical testing This variant is denoted ATM c.8185C>T at the cDNA level and p.Gln2729Ter (Q2729X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in the homozygous state in an individual with classic ataxia-telangiectasia (Mitui 2003). This variant is considered pathogenic.
Invitae RCV000410300 SCV000835581 pathogenic Ataxia-telangiectasia syndrome 2019-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2729*) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs587781967, ExAC 0.002%). This variant has been reported to be homozygous in individuals affected with ataxia-telangiectasia (PMID: 12815592, 24789685). ClinVar contains an entry for this variant (Variation ID: 141726). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Color RCV000130347 SCV000911669 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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