ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5188C>T (p.Arg1730Ter) (rs764389018)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169451 SCV000220872 likely pathogenic Ataxia-telangiectasia syndrome 2014-11-11 criteria provided, single submitter literature only
Invitae RCV000169451 SCV000261713 pathogenic Ataxia-telangiectasia syndrome 2019-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1730*) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs764389018, ExAC 0.001%). This variant has been observed in several individuals affected with ataxia-telangiectasia (PMID: 10425038, 12815592, 21792198, 22213089). ClinVar contains an entry for this variant (Variation ID: 189054). 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 RCV000570483 SCV000665457 pathogenic Hereditary cancer-predisposing syndrome 2019-03-27 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Color RCV000570483 SCV000682254 pathogenic Hereditary cancer-predisposing syndrome 2020-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000657610 SCV000779352 pathogenic not provided 2018-02-12 criteria provided, single submitter clinical testing This variant is denoted ATM c.5188C>T at the cDNA level and p.Arg1730Ter (R1730X) 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 (Mitui 2003, Mitui 2005, Carranza 2017, van Os 2017) and is considered pathogenic.

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