ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.701G>A (p.Gly234Asp)

gnomAD frequency: 0.00001  dbSNP: rs779328166
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001948049 SCV002191911 uncertain significance Cernunnos-XLF deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 234 of the NHEJ1 protein (p.Gly234Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs779328166, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with NHEJ1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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