ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5644C>T (p.Arg1882Ter) (rs786204433)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169043 SCV000220201 likely pathogenic Ataxia-telangiectasia syndrome 2014-03-27 criteria provided, single submitter literature only
Invitae RCV000169043 SCV000261294 pathogenic Ataxia-telangiectasia syndrome 2018-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1882 (p.Arg1882*) of the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in individuals affected with ataxia-telangiectasia in both the compound heterozygous and homozygous form (PMID: 12552559, 15039971, 23322442, 12815592, 21665257) and in individuals with breast cancer (PMID: 25625042). ClinVar contains an entry for this variant (Variation ID: 188737). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000213135 SCV000277013 pathogenic Hereditary cancer-predisposing syndrome 2016-12-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000235346 SCV000293155 pathogenic not provided 2018-07-02 criteria provided, single submitter clinical testing This pathogenic variant is denoted ATM c.5644C>T at the cDNA level and p.Arg1882Ter (R1882X) at the protein level. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (CGA>TGA), 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 or compound heterozygous state in several individuals with ataxia telangiectasia (Buzin 2002, Mitui 2003, Jeddane 2013), and in the heterozygous state in individuals with breast cancer (Decker 2017, Renault 2018). We consider this variant to be pathogenic.
Color RCV000213135 SCV000687632 pathogenic Hereditary cancer-predisposing syndrome 2014-12-09 criteria provided, single submitter clinical testing

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