ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.702C>T (p.Gly234=)

gnomAD frequency: 0.00001  dbSNP: rs754484855
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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 RCV000809828 SCV000950007 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 653961). This variant has not been reported in the literature in individuals affected with NHEJ1-related conditions. This variant is present in population databases (rs754484855, gnomAD 0.01%). This sequence change affects codon 234 of the NHEJ1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NHEJ1 protein.

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