ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2413C>T (p.Arg805Ter) (rs780619951)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199790 SCV000253738 pathogenic Ataxia-telangiectasia syndrome 2018-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 805 (p.Arg805*). It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs780619951, ExAC 0.05%). This variant has been reported in individuals affected with ataxia-telangiectasia (PMID: 9043869, 19691550,16941484,12815592, 15843990), as well as an individual with a personal or family history of breast or ovarian cancer (PMID: 24549055). ClinVar contains an entry for this variant (Variation ID: 216021). 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 RCV000221009 SCV000275927 pathogenic Hereditary cancer-predisposing syndrome 2017-09-07 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),Other acmg-defined mutation (i.e. initiation codon or gross deletion)
Counsyl RCV000199790 SCV000486043 pathogenic Ataxia-telangiectasia syndrome 2016-03-22 criteria provided, single submitter clinical testing
GeneDx RCV000489745 SCV000577402 pathogenic not provided 2018-06-22 criteria provided, single submitter clinical testing This variant is denoted ATM c.2413C>T at the cDNA level and p.Arg805Ter (R805X) 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 compound heterozygous state with other disease-causing ATM variants in multiple individuals with Ataxia telangiectasia and in the heterozygous state in individuals with breast cancer (Chessa 2009, Lin 2010, Ng 2016, Decker 2017). We consider this variant to be pathogenic.
Color RCV000221009 SCV000682052 pathogenic Hereditary cancer-predisposing syndrome 2017-02-13 criteria provided, single submitter clinical testing
Mendelics RCV000199790 SCV000838504 pathogenic Ataxia-telangiectasia syndrome 2018-07-02 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000762818 SCV000893176 pathogenic Familial cancer of breast; Ataxia-telangiectasia syndrome 2018-10-31 criteria provided, single submitter clinical testing

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