ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.448G>A (p.Val150Met)

gnomAD frequency: 0.00002  dbSNP: rs758387082
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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 RCV002018237 SCV002306479 uncertain significance Cernunnos-XLF deficiency 2022-07-19 criteria provided, single submitter clinical testing 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: 1512757). This variant has not been reported in the literature in individuals affected with NHEJ1-related conditions. This variant is present in population databases (rs758387082, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 150 of the NHEJ1 protein (p.Val150Met).

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