ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.1781A>G (p.Tyr594Cys)

gnomAD frequency: 0.00002  dbSNP: rs370246900
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631179 SCV000752180 uncertain significance Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 594 of the GBE1 protein (p.Tyr594Cys). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs370246900, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with GBE1-related conditions. 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 cysteine 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.
Natera, Inc. RCV001835007 SCV002082376 uncertain significance Glycogen storage disease, type IV 2019-10-28 no assertion criteria provided clinical testing

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