ClinVar Miner

Submissions for variant NM_005431.2(XRCC2):c.794T>G (p.Leu265Ter)

dbSNP: rs771671971
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001318177 SCV001508869 uncertain significance not provided 2020-03-09 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the XRCC2 gene (p.Leu265*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 16 amino acids of the XRCC2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with XRCC2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GenomeConnect - Invitae Patient Insights Network RCV001318177 SCV001749544 not provided not provided no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 03-10-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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