ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.858del (p.Lys287fs)

dbSNP: rs1057516858
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411293 SCV000486337 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2016-05-11 criteria provided, single submitter clinical testing
Invitae RCV000411293 SCV003261531 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2021-12-21 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: 370907). This variant has not been reported in the literature in individuals affected with G6PC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys287Asnfs*14) in the G6PC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 71 amino acid(s) of the G6PC protein.

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