ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.347T>C (p.Leu116Pro)

gnomAD frequency: 0.00002  dbSNP: rs776680924
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666659 SCV000790988 uncertain significance Glycogen storage disease, type V 2017-04-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666659 SCV000820015 pathogenic Glycogen storage disease, type V 2024-01-18 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 116 of the PYGM protein (p.Leu116Pro). This variant is present in population databases (rs776680924, gnomAD 0.1%). This missense change has been observed in individual(s) with glycogen storage disease and/or McArdle disease (PMID: 10417800, 29143597, 30011114, 34215481; Invitae). This variant is also known as L115P. ClinVar contains an entry for this variant (Variation ID: 551567). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000666659 SCV002779211 uncertain significance Glycogen storage disease, type V 2022-03-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000666659 SCV003810411 uncertain significance Glycogen storage disease, type V 2019-03-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV000666659 SCV004207224 pathogenic Glycogen storage disease, type V 2024-03-07 criteria provided, single submitter clinical testing

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