ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1769-1G>A

dbSNP: rs2058357329
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068083 SCV001233173 likely pathogenic Glycogen storage disease, type V 2019-04-20 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 14 of the PYGM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PYGM-related conditions. Donor and acceptor splice site variants 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). 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.

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