ClinVar Miner

Submissions for variant NM_015267.4(CUX2):c.2708G>A (p.Arg903His)

gnomAD frequency: 0.00001  dbSNP: rs1376326529
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192632 SCV001360882 uncertain significance not specified 2019-09-03 criteria provided, single submitter clinical testing Variant summary: CUX2 c.2708G>A (p.Arg903His) results in a non-conservative amino acid change located in the second CUT domain (IPR003350) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 9.1e-06 in 220910 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2708G>A in individuals affected with Autosomal Dominant Early Infantile Epileptic Encephalopathy and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have provided clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV005012588 SCV005632265 uncertain significance Developmental and epileptic encephalopathy, 67 2024-01-15 criteria provided, single submitter clinical testing

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