ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.631_633del (p.Asn211del)

dbSNP: rs1916151526
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202906 SCV001374041 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2019-09-12 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. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with JUP-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.631_633del, results in the deletion of 1 amino acid(s) of the JUP protein (p.Asn211del), but otherwise preserves the integrity of the reading frame.
Ambry Genetics RCV002365913 SCV002660600 uncertain significance Cardiovascular phenotype 2020-03-27 criteria provided, single submitter clinical testing The c.631_633delAAC variant (also known as p.N211del) is located in coding exon 3 of the JUP gene. This variant results from an in-frame AAC deletion at nucleotide positions 631 to 633. This results in the in-frame deletion of an asparagine residue at codon 211. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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