ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1236C>G (p.Ser412Arg)

gnomAD frequency: 0.00002  dbSNP: rs753922665
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820424 SCV000961135 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 412 of the GYS1 protein (p.Ser412Arg). This variant is present in population databases (rs753922665, 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: 662709). 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 tolerated. 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.
Ambry Genetics RCV004029039 SCV004881967 uncertain significance Inborn genetic diseases 2023-12-12 criteria provided, single submitter clinical testing The c.1236C>G (p.S412R) alteration is located in exon 10 (coding exon 10) of the GYS1 gene. This alteration results from a C to G substitution at nucleotide position 1236, causing the serine (S) at amino acid position 412 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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