ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.798del (p.Thr267fs)

gnomAD frequency: 0.00001  dbSNP: rs749323139
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411015 SCV000487287 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2016-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000411015 SCV003029432 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2022-07-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 371652). This variant has not been reported in the literature in individuals affected with G6PC-related conditions. This variant is present in population databases (rs749323139, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Thr267Argfs*34) in the G6PC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 91 amino acid(s) of the G6PC protein.

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