ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.242G>A (p.Arg81His)

gnomAD frequency: 0.00066  dbSNP: rs140362488
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243386 SCV001416542 uncertain significance Cernunnos-XLF deficiency 2022-07-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 81 of the NHEJ1 protein (p.Arg81His). This variant is present in population databases (rs140362488, gnomAD 0.1%). 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: 968285). 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.
New York Genome Center RCV001243386 SCV002506623 uncertain significance Cernunnos-XLF deficiency 2021-05-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034749 SCV004988186 uncertain significance Inborn genetic diseases 2023-12-21 criteria provided, single submitter clinical testing The c.242G>A (p.R81H) alteration is located in exon 3 (coding exon 2) of the NHEJ1 gene. This alteration results from a G to A substitution at nucleotide position 242, causing the arginine (R) at amino acid position 81 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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