ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1324C>A (p.Pro442Thr)

dbSNP: rs142951866
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205324 SCV001376573 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2023-09-14 criteria provided, single submitter clinical testing 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. This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 442 of the GYS1 protein (p.Pro442Thr). This variant is present in population databases (rs142951866, gnomAD 0.03%). 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: 936512). 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.

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