ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.900del (p.Gly301fs)

dbSNP: rs1555067335
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571091 SCV000660608 pathogenic Hereditary cancer-predisposing syndrome 2017-11-10 criteria provided, single submitter clinical testing The c.900delA pathogenic mutation, located in coding exon 6 of the ATM gene, results from a deletion of one nucleotide at position 900, causing a translational frameshift with a predicted alternate stop codon (p.G301Vfs*19). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Baylor Genetics RCV001004343 SCV001163271 likely pathogenic Ataxia-telangiectasia syndrome criteria provided, single submitter clinical testing
Invitae RCV001004343 SCV001204257 pathogenic Ataxia-telangiectasia syndrome 2022-05-03 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: 478982). This premature translational stop signal has been observed in individual(s) with a ATM-related disease (PMID: 25957637). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly301Valfs*19) 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 RCV000571091 SCV002530625 likely pathogenic Hereditary cancer-predisposing syndrome 2021-07-27 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV004024451 SCV004932182 pathogenic Familial cancer of breast 2024-01-11 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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