ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7210T>C (p.Tyr2404His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003188124 SCV003868869 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-24 criteria provided, single submitter clinical testing The p.Y2404H variant (also known as c.7210T>C), located in coding exon 48 of the ATM gene, results from a T to C substitution at nucleotide position 7210. The tyrosine at codon 2404 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003500814 SCV004261811 uncertain significance Ataxia-telangiectasia syndrome 2024-01-05 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 2404 of the ATM protein (p.Tyr2404His). 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: 2453989). 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 disruptive. 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.

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