ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3603del (p.Phe1201fs)

dbSNP: rs1057517129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410047 SCV000486794 likely pathogenic Ataxia-telangiectasia syndrome 2016-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000410047 SCV001590027 pathogenic Ataxia-telangiectasia syndrome 2021-10-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 371256). For these reasons, this variant has been classified as Pathogenic. 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). This sequence change creates a premature translational stop signal (p.Phe1201Leufs*6) in the ATM gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV004022146 SCV004930500 pathogenic Familial cancer of breast 2024-01-22 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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