ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.1018_1027delinsA (p.Val340_Tyr343delinsAsn)

dbSNP: rs1555560204
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536905 SCV000658102 uncertain significance Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2017-07-07 criteria provided, single submitter clinical testing This variant, c.1018_1027delinsA, is a complex sequence change that results in the deletion of 4 amino acids of the G6PC protein and the insertion of 1 amino acid (p.Val340_Tyr343delinsAsp). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a G6PC-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. In summary, this variant has uncertain impact on G6PC function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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