ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4584_4585del (p.Val1528_Tyr1529insTer)

dbSNP: rs2135802014
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001960372 SCV002220667 pathogenic Ataxia-telangiectasia syndrome 2022-12-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive Ataxia Telangiectasia (PMID: 16411093). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1529*) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872).

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