ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3693_3695del (p.Leu1231_Ser1232delinsPhe)

gnomAD frequency: 0.00003  dbSNP: rs786203389
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166672 SCV000217479 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-19 criteria provided, single submitter clinical testing The c.3693_3695delATC variant (also known as p.L1231_S1232delinsF) is located in coding exon 24 of the ATM gene. This variant results from an in-frame deletion of 3 nucleotides at positions 3693 and 3695. This results in the deletion of a leucine and serine between codons 1231 and 1232 and replacement by a phenylalanine. This amino acid region is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000233674 SCV000282940 uncertain significance Ataxia-telangiectasia syndrome 2024-02-01 criteria provided, single submitter clinical testing This variant, c.3693_3695del, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the ATM protein (p.Leu1231_Ser1232delinsPhe). This variant is present in population databases (rs786203389, gnomAD 0.003%). 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: 186997). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000486858 SCV000567616 uncertain significance not provided 2023-01-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of two amino acids and insertion of one different amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 19781682)
Color Diagnostics, LLC DBA Color Health RCV000166672 SCV000687494 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-24 criteria provided, single submitter clinical testing
Mendelics RCV000233674 SCV000838525 uncertain significance Ataxia-telangiectasia syndrome 2018-07-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462220 SCV004207650 uncertain significance Familial cancer of breast 2024-02-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000233674 SCV002078914 uncertain significance Ataxia-telangiectasia syndrome 2021-01-04 no assertion criteria provided clinical testing

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