ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.2467T>C (p.Tyr823His)

gnomAD frequency: 0.00004  dbSNP: rs376657998
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001351682 SCV001546176 uncertain significance DNA ligase IV deficiency 2022-10-07 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 823 of the LIG4 protein (p.Tyr823His). This variant is present in population databases (rs376657998, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LIG4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1047035). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on LIG4 protein function. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004793453 SCV005409640 uncertain significance not provided 2024-03-18 criteria provided, single submitter clinical testing

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