ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.346C>G (p.Pro116Ala)

dbSNP: rs1024943702
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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 RCV002028459 SCV002286396 uncertain significance Cernunnos-XLF deficiency 2021-07-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with NHEJ1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with alanine at codon 116 of the NHEJ1 protein (p.Pro116Ala). The proline residue is moderately conserved and there is a small physicochemical difference between proline and alanine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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