ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3695C>T (p.Ser1232Phe)

dbSNP: rs367603277
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020900 SCV001182444 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-25 criteria provided, single submitter clinical testing The p.S1232F variant (also known as c.3695C>T), located in coding exon 24 of the ATM gene, results from a C to T substitution at nucleotide position 3695. The serine at codon 1232 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is well 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.
Invitae RCV001049883 SCV001213957 uncertain significance Ataxia-telangiectasia syndrome 2022-07-25 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ATM protein function. ClinVar contains an entry for this variant (Variation ID: 824082). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is present in population databases (rs367603277, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1232 of the ATM protein (p.Ser1232Phe).
Natera, Inc. RCV001049883 SCV002078937 uncertain significance Ataxia-telangiectasia syndrome 2021-03-26 no assertion criteria provided clinical testing

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