ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.945dup (p.Tyr316fs)

dbSNP: rs2135265770
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001901033 SCV002158786 pathogenic Ataxia-telangiectasia syndrome 2021-08-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr316Ilefs*2) 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). This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ATM-related conditions.
CeGaT Center for Human Genetics Tuebingen RCV002275275 SCV002563083 pathogenic not provided 2022-07-01 criteria provided, single submitter clinical testing ATM: PVS1, PM2
BRCAlab, Lund University RCV003155978 SCV002589092 pathogenic Familial cancer of breast 2022-08-26 no assertion criteria provided clinical testing

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