ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1773+3G>A

dbSNP: rs1460748612
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001364505 SCV001560658 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-08-28 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. This sequence change falls in intron 10 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. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with JUP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1055778).
Ambry Genetics RCV003298583 SCV003996298 uncertain significance Cardiovascular phenotype 2023-06-15 criteria provided, single submitter clinical testing The c.1773+3G>A intronic variant results from a G to A substitution 3 nucleotides after coding exon 9 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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