ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.3719G>T (p.Gly1240Val)

gnomAD frequency: 0.00001  dbSNP: rs1374486975
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004538528 SCV004119694 uncertain significance RYR1-related disorder 2022-12-14 criteria provided, single submitter clinical testing The RYR1 c.3719G>T variant is predicted to result in the amino acid substitution p.Gly1240Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-38960107-G-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
GenomeConnect, ClinGen RCV001249251 SCV001423191 not provided Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 07-31-2017 by Lab or GTR ID 165021. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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