ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) (rs876659450)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219422 SCV000275938 pathogenic Hereditary cancer-predisposing syndrome 2015-05-21 criteria provided, single submitter clinical testing
GeneDx RCV000479095 SCV000568315 pathogenic not provided 2016-06-08 criteria provided, single submitter clinical testing This deletion of 2 nucleotides is denoted ATM c.1179_1180delGG at the cDNA level and p.Trp393Ter (W393X) at the protein level. The normal sequence, with the bases that are deleted in braces, is GCTG[GG]AAGT. The deletion creates a nonsense variant, which changes a Tryptophan to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. ATM c.1179_1180delGG, also published as 1179delGG and 1180delGG, has been reported in individuals with Ataxia-telangiectasia (Teraoka 1999, Chun 2002, Buzin 2003, Podralska 2014). This variant is considered pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000588480 SCV000694173 pathogenic Ataxia-telangiectasia syndrome 2016-01-20 criteria provided, single submitter clinical testing
Invitae RCV000588480 SCV000828812 pathogenic Ataxia-telangiectasia syndrome 2018-11-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp393*) in 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 observed in several individuals affected with ataxia telangiectasia (PMID: 10330348, 10873394, 12552559, 12552559). ClinVar contains an entry for this variant (Variation ID: 231937). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.

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