ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.818C>T (p.Ala273Val)

gnomAD frequency: 0.00002  dbSNP: rs768576604
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658597 SCV000780375 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000658597 SCV001765484 uncertain significance not provided 2020-10-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Invitae RCV001277988 SCV003521105 uncertain significance Glycogen storage disease, type V 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 273 of the PYGM protein (p.Ala273Val). This variant is present in population databases (rs768576604, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with PYGM-related conditions. ClinVar contains an entry for this variant (Variation ID: 546669). 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: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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.
Revvity Omics, Revvity RCV001277988 SCV003810376 uncertain significance Glycogen storage disease, type V 2023-02-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277988 SCV001464973 uncertain significance Glycogen storage disease, type V 2020-04-14 no assertion criteria provided clinical testing

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