ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.9073del (p.Val3025fs)

dbSNP: rs1555151928
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628091 SCV000748981 pathogenic Ataxia-telangiectasia syndrome 2022-09-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 524359). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ATM protein in which other variant(s) (p.Arg3047*) have been determined to be pathogenic (PMID: 8755918, 10980530, 18560558, 19431188, 19691550, 26628246). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val3025Cysfs*8) in the ATM gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acid(s) of the ATM protein.
Myriad Genetics, Inc. RCV004025304 SCV004933396 pathogenic Familial cancer of breast 2024-02-06 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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