ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.778C>A (p.Pro260Thr)

dbSNP: rs863224581
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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 RCV000694406 SCV000822851 uncertain significance Ataxia-telangiectasia syndrome 2022-10-13 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 572897). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 260 of the ATM protein (p.Pro260Thr).
Baylor Genetics RCV003465591 SCV004210108 uncertain significance Familial cancer of breast 2023-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025193 SCV005020143 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-01 criteria provided, single submitter clinical testing The p.P260T variant (also known as c.778C>A), located in coding exon 6 of the ATM gene, results from a C to A substitution at nucleotide position 778. The proline at codon 260 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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