ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9723C>T (p.Pro3241=)

gnomAD frequency: 0.00003  dbSNP: rs199828145
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153870 SCV000203464 uncertain significance not provided 2014-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078640 SCV001092220 benign RYR1-related disorder 2024-01-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998237 SCV004823236 likely benign Malignant hyperthermia, susceptibility to, 1 2023-12-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004525881 SCV005039362 likely benign not specified 2024-03-13 criteria provided, single submitter clinical testing Variant summary: RYR1 c.9723C>T alters a conserved nucleotide resulting in a synonymous change. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 8.4e-05 in 248854 control chromosomes in the gnomAD database, including 1 homozygote. This frequency does not allow for any conclusion about variant significance, but the presence of 1 homozygote may suggest a benign role for this variant. To our knowledge, no occurrence of c.9723C>T in individuals affected with Myopathy, RYR1-Associated and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 167622). Based on the evidence outlined above, the variant was classified as likely benign.
PreventionGenetics, part of Exact Sciences RCV001078640 SCV004713581 likely benign RYR1-related disorder 2021-09-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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