ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.1972A>G (p.Thr658Ala) (rs587782756)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132275 SCV000187358 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000524526 SCV000288938 uncertain significance Ataxia-telangiectasia-like disorder 2018-12-27 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 658 of the MRE11 protein (p.Thr658Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs587782756, ExAC 0.01%) but has not been reported in the literature in individuals with a MRE11-related disease. ClinVar contains an entry for this variant (Variation ID: 142837). The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. In addition, algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function, and is found in the population at an appreciable frequency. This variant is not anticipated to cause disease; however, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Athena Diagnostics Inc RCV000517173 SCV000614123 uncertain significance not specified 2016-11-16 criteria provided, single submitter clinical testing

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