ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1753_1756del (p.Leu585fs) (rs1555072008)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669542 SCV000794303 likely pathogenic Ataxia-telangiectasia syndrome 2017-09-22 criteria provided, single submitter clinical testing
Invitae RCV000669542 SCV001234031 pathogenic Ataxia-telangiectasia syndrome 2019-01-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu585Argfs*4) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with ataxia-telangiectasia (PMID: 10817650). This variant is also known as 1753del4 in the literature. ClinVar contains an entry for this variant (Variation ID: 553995). 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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