ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.708G>A (p.Trp236Ter)

dbSNP: rs2151932291
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387201 SCV001587765 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2020-02-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the G6PC protein. Other variant(s) that disrupt this region (p.Gln347*) have been determined to be pathogenic (PMID: 7573034, 8182131, 8733042, 10070617, 11949931, 28397058). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with G6PC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the G6PC gene (p.Trp236*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 122 amino acids of the G6PC protein.

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