ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1768+2T>G

gnomAD frequency: 0.00001  dbSNP: rs747513238
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411312 SCV000486924 likely pathogenic Glycogen storage disease, type V 2016-09-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000411312 SCV002293549 pathogenic Glycogen storage disease, type V 2024-10-03 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 14 of the PYGM 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 PYGM are known to be pathogenic (PMID: 8316268, 16786513). This variant is present in population databases (rs747513238, gnomAD 0.02%). Disruption of this splice site has been observed in individuals with glycogen storage disease type V (GSD V), also known as McArdle disease (PMID: 8279469, 22250184, 30415384). ClinVar contains an entry for this variant (Variation ID: 371363). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000411312 SCV002812667 likely pathogenic Glycogen storage disease, type V 2023-12-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000411312 SCV004207265 likely pathogenic Glycogen storage disease, type V 2024-03-27 criteria provided, single submitter clinical testing

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