ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro)

dbSNP: rs2050437440
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001211148 SCV001382673 likely pathogenic Glycogen storage disease, type VI 2023-03-23 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 445 of the PYGL protein (p.Leu445Pro). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PYGL protein function. ClinVar contains an entry for this variant (Variation ID: 941372). This missense change has been observed in individual(s) with glycogen storage disease (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency).
Molecular Diagnostics Laboratory, Seoul National University Hospital RCV001211148 SCV002754426 likely pathogenic Glycogen storage disease, type VI 2022-11-21 criteria provided, single submitter clinical testing

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