ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) (rs137852886)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000056134 SCV000797793 likely pathogenic Glycogen storage disease, type IV 2018-02-13 criteria provided, single submitter clinical testing
Invitae RCV001050904 SCV001215033 pathogenic Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2020-09-01 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 224 of the GBE1 protein (p.Leu224Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another GBE1 variant in individual with glycogen storage disease or polyglucosan body myopathy (PMID: 25665141, 8613547). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 2778). This variant has been reported to affect GBE1 protein function (PMID: 8613547). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002909 SCV000023067 pathogenic Glycogen storage disease IV, nonprogressive hepatic 1996-02-15 no assertion criteria provided literature only
GeneReviews RCV000056134 SCV000087213 pathologic Glycogen storage disease, type IV 2009-04-02 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000210781 SCV000266855 pathogenic Adult polyglucosan body neuropathy 1996-02-15 no assertion criteria provided literature only

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