ClinVar Miner

Submissions for variant NM_002312.3(LIG4):c.1882C>T (p.Arg628Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763875 SCV000894810 uncertain significance Lig4 syndrome; Multiple myeloma 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000700372 SCV000829124 uncertain significance Lig4 syndrome 2018-04-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 628 of the LIG4 protein (p.Arg628Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs755708095, ExAC 0.002%). This variant has not been reported in the literature in individuals with LIG4-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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