ClinVar Miner

Submissions for variant NM_005271.5(GLUD1):c.527-4T>G

gnomAD frequency: 0.00002  dbSNP: rs779153065
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002206358 SCV002492961 likely benign Hyperinsulinism-hyperammonemia syndrome 2022-08-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004700687 SCV005203059 uncertain significance not specified 2024-07-09 criteria provided, single submitter clinical testing Variant summary: GLUD1 c.527-4T>G alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.6e-05 in 244184 control chromosomes. 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.527-4T>G in individuals affected with Congenital Hyperinsulinism and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1674019). Based on the evidence outlined above, the variant was classified as uncertain significance.

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