ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.381G>C (p.Met127Ile)

gnomAD frequency: 0.00005  dbSNP: rs61752350
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047693 SCV001211671 uncertain significance DNA ligase IV deficiency 2022-08-06 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 127 of the LIG4 protein (p.Met127Ile). This variant is present in population databases (rs61752350, gnomAD 0.01%). 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: 844759). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002479290 SCV002793937 uncertain significance DNA ligase IV deficiency; Multiple myeloma 2022-03-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693507 SCV005192217 uncertain significance not provided criteria provided, single submitter not provided

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