ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.788del (p.Lys263fs)

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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 RCV002651266 SCV003517526 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2023-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys263Argfs*38) in the G6PC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 95 amino acid(s) of the G6PC protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 10737986). This variant is also known as 867delA. ClinVar contains an entry for this variant (Variation ID: 2197137). This variant disrupts a region of the G6PC protein in which other variant(s) (p.Gln347*) have been determined to be pathogenic (PMID: 7573034, 8182131, 8733042, 10070617, 11949931, 28397058). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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