ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5197G>A (p.Ala1733Thr)

dbSNP: rs1591708460
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001023699 SCV001185613 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-11 criteria provided, single submitter clinical testing The p.A1733T variant (also known as c.5197G>A), located in coding exon 34 of the ATM gene, results from a G to A substitution at nucleotide position 5197. The alanine at codon 1733 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001037821 SCV001201253 uncertain significance Ataxia-telangiectasia syndrome 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1733 of the ATM protein (p.Ala1733Thr). This variant is not present in population databases (gnomAD no frequency). 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: 825531). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Baylor Genetics RCV003467677 SCV004210264 uncertain significance Familial cancer of breast 2023-06-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001037821 SCV002080939 uncertain significance Ataxia-telangiectasia syndrome 2021-08-25 no assertion criteria provided clinical testing

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