ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.631+1G>T

gnomAD frequency: 0.00001  dbSNP: rs374937694
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092333 SCV001248776 pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing
Invitae RCV003591842 SCV004291529 pathogenic RYR1-Related Disorders 2023-03-03 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 of the RYR1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RYR1 are known to be pathogenic (PMID: 23919265, 25960145, 28818389, 30611313). This variant is present in population databases (rs374937694, gnomAD 0.02%). Disruption of this splice site has been observed in individual(s) with autosomal recessive myopathy (PMID: 30611313). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 872068). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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