ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.749C>T (p.Pro250Leu)

dbSNP: rs1472614445
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330996 SCV001522879 uncertain significance Glycogen storage disease, type VI 2019-02-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001330996 SCV003463025 uncertain significance Glycogen storage disease, type VI 2022-07-08 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1029652). This variant has not been reported in the literature in individuals affected with PYGL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 250 of the PYGL protein (p.Pro250Leu). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003234048 SCV003932202 uncertain significance not provided 2023-03-10 criteria provided, single submitter clinical testing PM2, PP3

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