ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.986C>A (p.Thr329Asn)

dbSNP: rs370645480
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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 RCV000223376 SCV000278567 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-27 criteria provided, single submitter clinical testing The p.T329N variant (also known as c.986C>A), located in coding exon 8 of the MRE11A gene, results from a C to A substitution at nucleotide position 986. The threonine at codon 329 is replaced by asparagine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000704453 SCV000833403 uncertain significance Ataxia-telangiectasia-like disorder 2022-03-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 329 of the MRE11 protein (p.Thr329Asn). This variant is present in population databases (rs370645480, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MRE11-related conditions. ClinVar contains an entry for this variant (Variation ID: 234072). 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: "Benign"; Align-GVGD: "Class C0"). 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.
Sema4, Sema4 RCV000223376 SCV002538439 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-19 criteria provided, single submitter curation
Baylor Genetics RCV003469097 SCV004193822 uncertain significance Ataxia-telangiectasia-like disorder 1 2023-08-05 criteria provided, single submitter clinical testing

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