ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.446_449TTCT[1] (p.Leu150_Ser151insTer) (rs771936821)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000583880 SCV000687555 pathogenic Hereditary cancer-predisposing syndrome 2017-10-02 criteria provided, single submitter clinical testing
Invitae RCV000707401 SCV000836499 pathogenic Ataxia-telangiectasia syndrome 2018-04-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser151*) 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 combination with another pathogenic variant in an individual affected with ataxia-telangiectasia, and in a heterozygous individual with gastric cancer (PMID: 26506520, 17124347). This variant is also known as p.I149fs in the literature. ClinVar contains an entry for this variant (Variation ID: 490572). 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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