ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.860C>T (p.Ser287Leu)

gnomAD frequency: 0.00014  dbSNP: rs760280185
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001305392 SCV001494726 uncertain significance Cernunnos-XLF deficiency 2022-03-20 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 287 of the NHEJ1 protein (p.Ser287Leu). This variant is present in population databases (rs760280185, gnomAD 0.02%). 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: 1008109). 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 leucine 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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