ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.768G>C (p.Gln256His)

gnomAD frequency: 0.00001  dbSNP: rs149249203
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002024040 SCV002307694 uncertain significance Cernunnos-XLF deficiency 2021-02-02 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with NHEJ1-related conditions. This variant is present in population databases (rs149249203, ExAC 0.01%). This sequence change replaces glutamine with histidine at codon 256 of the NHEJ1 protein (p.Gln256His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine.

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