ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) (rs137852887)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433912 SCV000521030 pathogenic not provided 2016-12-08 criteria provided, single submitter clinical testing The F257L variant in the GBE1 gene has previously been reported in association with glycogen storage disorder type IV in a individual who was also compound heterozygous for a nonsense variant (Bao et al., 1996). Functional analysis of F257L found that it is associated with significantly reduced enzyme activity (Bao et al., 1996). Therefore we interpret F257L to be a pathogenic variant.
OMIM RCV000002912 SCV000023070 pathogenic Glycogen storage disease IV, classic hepatic 1996-02-15 no assertion criteria provided literature only
GeneReviews RCV000056143 SCV000087224 pathologic Glycogen storage disease, type IV 2009-04-02 no assertion criteria provided curation Converted during submission to Pathogenic.

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