ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.590G>C (p.Gly197Ala)

dbSNP: rs779944478
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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 RCV000696504 SCV000825067 uncertain significance DNA ligase IV deficiency 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 197 of the LIG4 protein (p.Gly197Ala). This variant is present in population databases (rs779944478, gnomAD 0.08%), including at least one homozygous and/or hemizygous individual. 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: 574546). 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 disruptive. 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV000696504 SCV001440256 uncertain significance DNA ligase IV deficiency 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.

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