ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1092+1G>A

gnomAD frequency: 0.00001  dbSNP: rs749560316
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411263 SCV000485341 likely pathogenic Glycogen storage disease, type V 2015-11-19 criteria provided, single submitter clinical testing
Invitae RCV000411263 SCV001575458 likely pathogenic Glycogen storage disease, type V 2023-08-02 criteria provided, single submitter clinical testing 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. 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: 370110). Disruption of this splice site has been observed in individual(s) with glycogen storage disease (PMID: 16786513). This variant is present in population databases (rs749560316, gnomAD 0.003%). This sequence change affects a donor splice site in intron 9 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).
Natera, Inc. RCV000411263 SCV002092329 likely pathogenic Glycogen storage disease, type V 2020-10-06 no assertion criteria provided clinical testing

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