ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.707+5C>A

gnomAD frequency: 0.00001  dbSNP: rs375580484
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061308 SCV001226046 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-03-20 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 855950). This variant has not been reported in the literature in individuals affected with JUP-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change falls in intron 4 of the JUP gene. It does not directly change the encoded amino acid sequence of the JUP protein. It affects a nucleotide within the consensus splice site.
Ambry Genetics RCV002365738 SCV002661562 uncertain significance Cardiovascular phenotype 2022-06-29 criteria provided, single submitter clinical testing The c.707+5C>A intronic variant results from a C to A substitution 5 nucleotides after coding exon 3 in the JUP gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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