ClinVar Miner

Submissions for variant NM_002312.3(LIG4):c.563G>A (p.Arg188Gln) (rs748385144)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481605 SCV000565110 likely pathogenic not provided 2013-09-26 criteria provided, single submitter clinical testing A novel R188Q missense change likely associated with disease was identified in the LIG4 gene. To our knowledge, this variant has neither been published as a pathogenic nor reported as a benign polymorphism. The R188Q missense change was not observed in approximately 6,500 individuals of European and African American ancestry in an external variant database indicating it is not a common benign variant in these populations.R188Q represents a non-conservative amino acid substitution, as a positively-charged Arginine residue is replaced with a neutral, polar Glutamine residue. The position in the LIG4 protein where this substitution occurs is highly conserved among species and is located in the DNA-binding domain of the functional protein. Therefore, R188Q is a strong candidate for a pathogenic variant however, the possibility that it is a benign variant cannot be excluded.
Illumina Clinical Services Laboratory,Illumina RCV000302024 SCV000382224 uncertain significance Severe combined immunodeficiency with sensitivity to ionizing radiation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359181 SCV000382225 uncertain significance Lig4 syndrome 2016-06-14 criteria provided, single submitter clinical testing

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