Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002513079 | SCV003440132 | pathogenic | not provided | 2022-08-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects GCK function (PMID: 10455021, 10525657, 17082186, 19146401). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 16140). This missense change has been observed in individual(s) with autosomal dominant familial hyperinsulinism (PMID: 9435328). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 455 of the GCK protein (p.Val455Met). |
| OMIM | RCV000017520 | SCV000037792 | pathogenic | Hyperinsulinism due to glucokinase deficiency | 1998-01-22 | no assertion criteria provided | literature only |