ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5979_5983del (p.Ser1993fs) (rs876660134)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219008 SCV000277309 pathogenic Hereditary cancer-predisposing syndrome 2016-10-20 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)
Color RCV000219008 SCV000682293 pathogenic Hereditary cancer-predisposing syndrome 2016-04-25 criteria provided, single submitter clinical testing
Counsyl RCV000459567 SCV000792875 pathogenic Ataxia-telangiectasia syndrome 2017-07-19 criteria provided, single submitter clinical testing
GeneKor MSA RCV000219008 SCV000821701 pathogenic Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000459567 SCV000547057 pathogenic Ataxia-telangiectasia syndrome 2017-08-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1993Argfs*23) in the ATM gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in the literature in several individuals affected with ataxia-telangectasia (PMID: 8845835, 17124347, 17910737, 19691550, 23454770). This variant is also known as 5979del5 or 5979delTAAAG in the literature. ClinVar contains an entry for this variant (Variation ID: 233016). 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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