ClinVar Miner

Submissions for variant NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser)

dbSNP: rs121909733
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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 RCV000017504 SCV001378517 uncertain significance Hyperinsulinism-hyperammonemia syndrome 2019-09-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with serine at codon 499 of the GLUD1 protein (p.Gly499Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. 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. This variant disrupts the p.Gly499 amino acid residue in GLUD1. Other variant(s) that disrupt this residue have been observed in individuals with GLUD1-related conditions (PMID:10871207, 18928469, 9571255, 30352420, 19046187), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Not Available; PolyPhen-2: "Benign"; Align-GVGD: Not Available). This variant has been observed in an individual affected with HI/HA (PMID: 9571255, Invitae). ClinVar contains an entry for this variant (Variation ID: 16124).
OMIM RCV000017504 SCV000037776 pathogenic Hyperinsulinism-hyperammonemia syndrome 1998-05-07 no assertion criteria provided literature only

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