ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.1022T>A (p.Ile341Asn)

gnomAD frequency: 0.00003  dbSNP: rs387906505
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000012789 SCV000816879 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2023-11-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 341 of the G6PC protein (p.Ile341Asn). This variant is present in population databases (rs387906505, gnomAD 0.04%). This missense change has been observed in individual(s) with glycogen storage disease (PMID: 9001800, 11161844, 24980439). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 12009). 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 with a positive predictive value of 95%. Experimental studies have shown that this missense change affects G6PC function (PMID: 11739393). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012789 SCV000033029 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 1996-10-01 no assertion criteria provided literature only

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