ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.6635T>C (p.Val2212Ala)

dbSNP: rs193922793
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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 RCV001234043 SCV001406669 uncertain significance RYR1-related disorder 2022-06-13 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 variant disrupts the p.Val2212 amino acid residue in RYR1. Other variant(s) that disrupt this residue have been observed in individuals with RYR1-related conditions (PMID: 16835904; Invitae), which suggests that this may be a clinically significant amino acid residue. 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"). ClinVar contains an entry for this variant (Variation ID: 133167). This missense change has been observed in individual(s) with clinical features of malignant hyperthermia (PMID: 16917943; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 2212 of the RYR1 protein (p.Val2212Ala).
RYR1 database RCV000119665 SCV000154572 not provided not provided no assertion provided not provided

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