ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.437G>A (p.Arg146His)

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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 RCV003066885 SCV003454207 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2022-04-01 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 variant has not been reported in the literature in individuals affected with GYS1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 146 of the GYS1 protein (p.Arg146His).
Ambry Genetics RCV004978528 SCV005597106 uncertain significance Inborn genetic diseases 2024-08-12 criteria provided, single submitter clinical testing The c.437G>A (p.R146H) alteration is located in exon 3 (coding exon 3) of the GYS1 gene. This alteration results from a G to A substitution at nucleotide position 437, causing the arginine (R) at amino acid position 146 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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