ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2239C>T (p.Gln747Ter)

dbSNP: rs2080483369
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001060448 SCV001225135 pathogenic Ataxia-telangiectasia syndrome 2021-08-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 855230). This premature translational stop signal has been observed in individual(s) with ataxia-telangiectasia (PMID: 27664052). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln747*) 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).
Sema4, Sema4 RCV002256672 SCV002534244 likely pathogenic Hereditary cancer-predisposing syndrome 2021-12-13 criteria provided, single submitter curation

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