ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.11932A>G (p.Ser3978Gly)

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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 RCV002993987 SCV003296884 uncertain significance RYR1-related disorder 2022-04-21 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 3978 of the RYR1 protein (p.Ser3978Gly). This variant is present in population databases (rs773430054, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. 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: "Deleterious"; PolyPhen-2: "Benign"; 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.
Revvity Omics, Revvity RCV003134582 SCV003814356 uncertain significance not provided 2019-06-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004960878 SCV005496908 uncertain significance Inborn genetic diseases 2024-10-19 criteria provided, single submitter clinical testing The c.11932A>G (p.S3978G) alteration is located in exon 87 (coding exon 87) of the RYR1 gene. This alteration results from a A to G substitution at nucleotide position 11932, causing the serine (S) at amino acid position 3978 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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