ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.700G>A (p.Gly234Ser)

gnomAD frequency: 0.00001  dbSNP: rs191958428
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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 RCV000645372 SCV000767117 uncertain significance Cernunnos-XLF deficiency 2022-05-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 234 of the NHEJ1 protein (p.Gly234Ser). This variant is present in population databases (rs191958428, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with NHEJ1-related conditions. ClinVar contains an entry for this variant (Variation ID: 536738). 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. 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 RCV000645372 SCV001749600 not provided Cernunnos-XLF deficiency no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 12-18-2020 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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