ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4106C>A (p.Ser1369Ter) (rs1057520640)

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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 RCV000565000 SCV000660627 pathogenic Hereditary cancer-predisposing syndrome 2016-05-25 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)
Counsyl RCV000472677 SCV000678102 likely pathogenic Ataxia-telangiectasia syndrome 2017-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000435435 SCV000516711 pathogenic not provided 2015-04-14 criteria provided, single submitter clinical testing This pathogenic variant is denoted ATM c.4106C>A at the cDNA level and p.Ser1369Ter (S1369X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic. The presence of
Invitae RCV000472677 SCV000546927 pathogenic Ataxia-telangiectasia syndrome 2017-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1369 (p.Ser1369*) of the ATM gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in ATM are known to be pathogenic (PMID: 10817650, 19781682). For these reasons, this variant has been classified as Pathogenic.

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