ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.1964_1969+4delinsGAAAAA

dbSNP: rs2503489724
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003063385 SCV003455584 pathogenic Glycogen storage disease, type VI 2024-09-09 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 16 of the PYGL gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has been observed in individuals with clinical features of glycogen storage disease (PMID: 17705025; internal data). This variant is also known as c.1964_1969inv6;c.1969+1_+4delGTAC. For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003404048 SCV004104256 pathogenic PYGL-related disorder 2023-03-03 criteria provided, single submitter clinical testing The PYGL c.1964_1969+4delinsGAAAAA variant is predicted to result in an in-frame deletion and insertion. This variant is predicted to abolish a canonical splice site. This variant was reported in the compound heterozygous state in an individual with glycogen storage disease 6 (Beauchamp et al. 2007. PubMed ID: 17705025). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.

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