ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter)

gnomAD frequency: 0.00002  dbSNP: rs1057517145
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412392 SCV000486816 likely pathogenic Glycogen storage disease, type V 2016-08-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000412392 SCV001586796 pathogenic Glycogen storage disease, type V 2022-07-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PYGM-related conditions. This sequence change creates a premature translational stop signal (p.Tyr84*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. ClinVar contains an entry for this variant (Variation ID: 371276). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000412392 SCV004207301 likely pathogenic Glycogen storage disease, type V 2022-11-24 criteria provided, single submitter clinical testing

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