ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.501dup (p.Asn168Ter)

dbSNP: rs1555136390
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597743 SCV000700513 pathogenic not provided 2017-03-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465329 SCV004207238 likely pathogenic Glycogen storage disease, type V 2023-08-28 criteria provided, single submitter clinical testing
Invitae RCV003465329 SCV004472411 pathogenic Glycogen storage disease, type V 2023-06-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PYGM-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 496892). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn168*) in the PYGM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PYGM are known to be pathogenic (PMID: 8316268, 16786513).

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