ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.10868T>G (p.Leu3623Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV003334471 SCV004042836 uncertain significance Central core myopathy 2023-10-06 criteria provided, single submitter clinical testing The c.10868T>G variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been published in literature nor reported to the clinical databases like ClinVar, Human Genome Mutation Database (HGMD) or OMIM, in any affected individuals. In silico pathogenicity prediction programs like SIFT, PolyPhen2, MutationTaster2, CADD etc predicted this variant to be likely deleterious, however these predictions were not confirmed by published functional studies.

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