ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.169C>G (p.Arg57Gly)

dbSNP: rs118204451
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000001032 SCV002168456 uncertain significance Cernunnos-XLF deficiency 2022-03-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 57 of the NHEJ1 protein (p.Arg57Gly). This variant is present in population databases (rs118204451, gnomAD 0.0009%). This missense change has been observed in individual(s) with NHEJ1-related conditions (PMID: 16439204, 20597108). ClinVar contains an entry for this variant (Variation ID: 981). 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"). Experimental studies have shown that this missense change affects NHEJ1 function (PMID: 17317666). 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.
AiLife Diagnostics, AiLife Diagnostics RCV002223749 SCV002502231 likely pathogenic not provided 2022-03-18 criteria provided, single submitter clinical testing
OMIM RCV000001032 SCV000021182 pathogenic Cernunnos-XLF deficiency 2006-01-27 no assertion criteria provided literature only

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