ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3590T>C (p.Val1197Ala)

dbSNP: rs1555092259
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628052 SCV000748940 uncertain significance Ataxia-telangiectasia syndrome 2023-06-23 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 524339). This missense change has been observed in individual(s) with breast cancer (PMID: 26976419). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1197 of the ATM protein (p.Val1197Ala).
Ambry Genetics RCV001020674 SCV001182184 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-27 criteria provided, single submitter clinical testing The p.V1197A variant (also known as c.3590T>C), located in coding exon 24 of the ATM gene, results from a T to C substitution at nucleotide position 3590. The valine at codon 1197 is replaced by alanine, an amino acid with similar properties. This variant has been reported in a cohort of 488 patients with breast cancer (Tung et al. J. Clin. Oncol. 2016 May;34(13):1460-8). This amino acid position is well conserved in available vertebrate species. This splice prediction software does not predict a deleterious effect on splicing. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000628052 SCV002082844 uncertain significance Ataxia-telangiectasia syndrome 2021-01-14 no assertion criteria provided clinical testing

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