ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1324C>G (p.Pro442Ala)

gnomAD frequency: 0.00054  dbSNP: rs142951866
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592153 SCV000703045 uncertain significance not provided 2016-10-28 criteria provided, single submitter clinical testing
Invitae RCV001214230 SCV001385903 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 442 of the GYS1 protein (p.Pro442Ala). This variant is present in population databases (rs142951866, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with GYS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 498167). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
GeneDx RCV000592153 SCV002558067 uncertain significance not provided 2022-07-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 16306363, 9267990, 28701297, 10102713, 12870167, 10874034)

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