ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.13022C>T (p.Thr4341Met)

gnomAD frequency: 0.00058  dbSNP: rs752855919
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000415733 SCV000493461 uncertain significance not provided 2022-05-01 criteria provided, single submitter clinical testing RYR1: PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV000808483 SCV000948593 uncertain significance RYR1-related disorder 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 4341 of the RYR1 protein (p.Thr4341Met). This variant is present in population databases (rs752855919, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 374619). 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 not expected to disrupt RYR1 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 RCV002502448 SCV002813287 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-09-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000415733 SCV003814475 uncertain significance not provided 2023-02-27 criteria provided, single submitter clinical testing

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