ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.324C>G (p.Ile108Met)

dbSNP: rs5455
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001294892 SCV001483790 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 108 of the GYS1 protein (p.Ile108Met). This variant is present in population databases (rs5455, gnomAD 0.02%). 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: 998960). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GYS1 protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV001294892 SCV002816867 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2021-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035623 SCV004881973 uncertain significance Inborn genetic diseases 2024-02-21 criteria provided, single submitter clinical testing The c.324C>G (p.I108M) alteration is located in exon 3 (coding exon 3) of the GYS1 gene. This alteration results from a C to G substitution at nucleotide position 324, causing the isoleucine (I) at amino acid position 108 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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