ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3110C>A (p.Ser1037Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003034910 SCV003331317 uncertain significance Ataxia-telangiectasia syndrome 2022-10-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ATM-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 1037 of the ATM protein (p.Ser1037Tyr).
Ambry Genetics RCV004068682 SCV005037683 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-27 criteria provided, single submitter clinical testing The p.S1037Y variant (also known as c.3110C>A), located in coding exon 20 of the ATM gene, results from a C to A substitution at nucleotide position 3110. The serine at codon 1037 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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