ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.1768+1G>A (rs113993982)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000012772 SCV000819606 pathogenic Glycogen storage disease, type VI 2018-04-13 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 14 of the PYGL gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs113993982, ExAC 0.01%). This variant has been reported as homozygous in an individual affected with glycogen-storage disease type VI (PMID: 9529348). ClinVar contains an entry for this variant (Variation ID: 11992). Experimental studies have shown that this splice donor change results in an aberrantly spliced PYGL primary mRNA (PMID: 9529348). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PYGL are known to be pathogenic (PMID: 9536091, 21646031). For these reasons, this variant has been classified as Pathogenic.
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV000012772 SCV000996283 pathogenic Glycogen storage disease, type VI criteria provided, single submitter clinical testing
Baylor Genetics RCV000012772 SCV001522876 pathogenic Glycogen storage disease, type VI 2020-07-27 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000012772 SCV000033007 pathogenic Glycogen storage disease, type VI 1998-04-01 no assertion criteria provided literature only
GeneReviews RCV000012772 SCV000040944 pathologic Glycogen storage disease, type VI 2011-05-17 no assertion criteria provided curation Converted during submission to Pathogenic.

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