ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.957+5_957+29del (rs794726982)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000721748 SCV000224851 uncertain significance not provided 2014-12-08 criteria provided, single submitter clinical testing
Invitae RCV000655587 SCV000777518 uncertain significance RYR1-Related Disorders 2018-12-20 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the RYR1 gene. It does not directly change the encoded amino acid sequence of the RYR1 protein, but it affects a nucleotide within the consensus splice site of the intron. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a RYR1-related disease. ClinVar contains an entry for this variant (Variation ID: 193600). Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on RYR1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000173706 SCV000540242 uncertain significance not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Intronic deletion, possible weak splice impact; ExAC: 0.1% (12/11570) Latino chromosomes (does not pass quality filter)
PreventionGenetics RCV000721748 SCV000852879 uncertain significance not provided 2016-02-03 criteria provided, single submitter clinical testing

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