ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1403+1G>A

dbSNP: rs1191939323
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001382415 SCV001581169 pathogenic Glycogen storage disease, type V 2022-11-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1070312). Disruption of this splice site has been observed in individual(s) with McArdle disease (PMID: 26436962). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 11 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).
Revvity Omics, Revvity RCV001382415 SCV003819011 pathogenic Glycogen storage disease, type V 2022-05-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV001382415 SCV004207282 pathogenic Glycogen storage disease, type V 2023-04-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001382415 SCV002092318 pathogenic Glycogen storage disease, type V 2021-03-31 no assertion criteria provided clinical testing

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