ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.5688_5690GGA[1] (p.Glu1898del) (rs772076294)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780689 SCV000918160 uncertain significance not specified 2018-05-08 criteria provided, single submitter clinical testing Variant summary: RYR1 c.5691_5693delGGA (p.Glu1898del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant allele was found at a frequency of 1.6e-05 in 242590 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in RYR1 causing Malignant Hyperthermia Susceptibility (1.6e-05 vs 8.8e-05), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.5691_5693delGGA in individuals affected with Malignant Hyperthermia Susceptibility and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV000655509 SCV000777440 uncertain significance RYR1-Related Disorders 2017-11-10 criteria provided, single submitter clinical testing This variant, c.5691_5693delGGA, results in the deletion of 1 amino acid(s) of the RYR1 protein (p.Glu1898del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs772076294, ExAC 0.003%). This variant has not been reported in the literature in individuals with RYR1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid is currently unknown. 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.

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