ClinVar Miner

Submissions for variant NM_002312.3(LIG4):c.2525C>A (p.Ala842Asp) (rs72660870)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763874 SCV000894809 uncertain significance Lig4 syndrome; Multiple myeloma 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383863 SCV000382191 uncertain significance Severe combined immunodeficiency with sensitivity to ionizing radiation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272998 SCV000382192 uncertain significance Lig4 syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000272998 SCV000762711 uncertain significance Lig4 syndrome 2018-04-23 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 842 of the LIG4 protein (p.Ala842Asp). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is present in population databases (rs72660870, ExAC 0.2%). This variant has not been reported in the literature in individuals with LIG4-related disease. ClinVar contains an entry for this variant (Variation ID: 310975). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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