ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.680C>G (p.Ser227Ter)

dbSNP: rs762998620
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704975 SCV000833952 pathogenic Ataxia-telangiectasia syndrome 2022-05-21 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: 581216). 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.Ser227*) 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).
Ambry Genetics RCV002360820 SCV002666325 pathogenic Hereditary cancer-predisposing syndrome 2020-06-04 criteria provided, single submitter clinical testing The p.S227* pathogenic mutation (also known as c.680C>G), located in coding exon 6 of the ATM gene, results from a C to G substitution at nucleotide position 680. This changes the amino acid from a serine to a stop codon within coding exon 6. 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.
Myriad Genetics, Inc. RCV004026677 SCV004931739 pathogenic Familial cancer of breast 2024-01-09 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Baylor Genetics RCV004026677 SCV005056930 likely pathogenic Familial cancer of breast 2024-02-29 criteria provided, single submitter clinical testing

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