ClinVar Miner

Submissions for variant NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)

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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 RCV002608116 SCV002945558 likely benign Hyperinsulinism-hyperammonemia syndrome 2024-08-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003403862 SCV004122264 uncertain significance not specified 2023-10-27 criteria provided, single submitter clinical testing Variant summary: GLUD1 c.1466C>G (p.Pro489Arg) results in a non-conservative amino acid change located in the Glutamate/phenylalanine/leucine/valine/L-tryptophan dehydrogenase domain (IPR006096) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251462 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.1466C>G in individuals affected with Congenital Hyperinsulinism and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002608116 SCV005678959 uncertain significance Hyperinsulinism-hyperammonemia syndrome 2024-05-03 criteria provided, single submitter clinical testing

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