ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.1045C>T (p.Arg349Trp) (rs570102851)

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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 RCV000223190 SCV000277067 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-20 criteria provided, single submitter clinical testing The p.R349W variant (also known as c.1045C>T), located in coding exon 9 of the MRE11A gene, results from a C to T substitution at nucleotide position 1045. The arginine at codon 349 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly 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.
Fulgent Genetics,Fulgent Genetics RCV000763777 SCV000894679 uncertain significance Ataxia-telangiectasia-like disorder 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001064569 SCV001229479 uncertain significance Ataxia-telangiectasia-like disorder 2019-01-29 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 349 of the MRE11 protein (p.Arg349Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with breast cancer (PMID: 29752822). ClinVar contains an entry for this variant (Variation ID: 232825). 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: Probably Damaging; 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.
Baylor Genetics RCV000763777 SCV001481269 uncertain significance Ataxia-telangiectasia-like disorder 1 2018-12-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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