ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.557A>G (p.Glu186Gly)

gnomAD frequency: 0.00001  dbSNP: rs780016182
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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 RCV001295748 SCV001484693 uncertain significance Cernunnos-XLF deficiency 2022-08-22 criteria provided, single submitter clinical testing This variant is present in population databases (rs780016182, gnomAD 0.003%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 999715). This variant has not been reported in the literature in individuals affected with NHEJ1-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 186 of the NHEJ1 protein (p.Glu186Gly).

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