ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter)

dbSNP: rs1057516981
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412416 SCV000486541 likely pathogenic Ataxia-telangiectasia syndrome 2016-06-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000582272 SCV000687485 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 24 of the ATM gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of ATM function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000412416 SCV000942311 pathogenic Ataxia-telangiectasia syndrome 2023-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1181*) 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 (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ataxia-telangiectasia (PMID: 18321536). ClinVar contains an entry for this variant (Variation ID: 371071). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000582272 SCV001182054 pathogenic Hereditary cancer-predisposing syndrome 2023-03-03 criteria provided, single submitter clinical testing The p.K1181* pathogenic mutation (also known as c.3541A>T), located in coding exon 23 of the ATM gene, results from an A to T substitution at nucleotide position 3541. This changes the amino acid from a lysine to a stop codon within coding exon 23. 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.
Revvity Omics, Revvity RCV000412416 SCV003811101 pathogenic Ataxia-telangiectasia syndrome 2022-01-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV003470342 SCV004212076 pathogenic Familial cancer of breast 2023-03-02 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003470342 SCV004931379 pathogenic Familial cancer of breast 2024-01-22 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.

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