ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.518T>C (p.Leu173Pro)

gnomAD frequency: 0.00001  dbSNP: rs775826449
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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 RCV000793922 SCV000933301 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2023-03-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt G6PC protein function. ClinVar contains an entry for this variant (Variation ID: 640818). This missense change has been observed in individual(s) with glycogen storage disease type 1a (PMID: 17607665, 27511118; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs775826449, gnomAD 0.01%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 173 of the G6PC protein (p.Leu173Pro).

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