ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.660+1G>A

dbSNP: rs1555136208
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667359 SCV000791793 likely pathogenic Glycogen storage disease, type V 2017-05-24 criteria provided, single submitter clinical testing
Invitae RCV000667359 SCV001412524 likely pathogenic Glycogen storage disease, type V 2022-07-30 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. ClinVar contains an entry for this variant (Variation ID: 552142). This sequence change affects a donor splice site in intron 5 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PYGM-related conditions.
Natera, Inc. RCV000667359 SCV002092338 likely pathogenic Glycogen storage disease, type V 2017-06-26 no assertion criteria provided clinical testing

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