ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.213G>C (p.Gln71His)

gnomAD frequency: 0.00035  dbSNP: rs200998100
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795904 SCV000935385 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 71 of the GYS1 protein (p.Gln71His). This variant is present in population databases (rs200998100, gnomAD 0.04%). This missense change has been observed in individual(s) with non-insulin-dependent diabetes mellitus (PMID: 9389424). ClinVar contains an entry for this variant (Variation ID: 642436). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GeneDx RCV001585716 SCV001810863 uncertain significance not provided 2023-10-30 criteria provided, single submitter clinical testing Identified in an association study as heterozygous in a patient with non-insulin dependent diabetes mellitus in the literature, but no second variant was reported (PMID: 9389424); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 9389424)

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