ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.1042del (p.Val348fs)

dbSNP: rs2544214610
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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 RCV003625184 SCV004407658 uncertain significance Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2022-11-14 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the G6PC gene (p.Val348Serfs*19). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 10 amino acid(s) of the G6PC protein and extend the protein by 8 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with G6PC-related conditions. This variant disrupts the C-terminus of the G6PC protein. Other variant(s) that disrupt this region (p.Gln351*) have been observed in individuals with G6PC-related conditions (PMID: 32313153). This suggests that this may be a clinically significant region of the protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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