ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.943_944del (p.Leu315fs)

gnomAD frequency: 0.00001  dbSNP: rs768024233
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245976 SCV001419303 pathogenic Ataxia-telangiectasia syndrome 2024-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu315Ilefs*2) 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 present in population databases (rs768024233, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 970408). For these reasons, this variant has been classified as Pathogenic.
Color Diagnostics, LLC DBA Color Health RCV001526212 SCV001736515 pathogenic Hereditary cancer-predisposing syndrome 2020-07-22 criteria provided, single submitter clinical testing This variant deletes 2 nucleotides in exon 8 of the ATM gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has been reported in individuals affected with hereditary cancer in the literature (communication with external laboratory). This variant has been identified in 2/250900 chromosomes 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.
BRCAlab, Lund University RCV003155967 SCV002589081 pathogenic Familial cancer of breast 2022-08-26 no assertion criteria provided clinical testing

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