ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1622A>T (p.His541Leu)

dbSNP: rs782449369
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000623765 SCV000740582 uncertain significance Primary familial dilated cardiomyopathy 2017-03-31 criteria provided, single submitter clinical testing
Invitae RCV001228434 SCV001400834 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-04-26 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 520526). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is present in population databases (rs782449369, gnomAD 0.001%). This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 541 of the JUP protein (p.His541Leu).
Ambry Genetics RCV002404707 SCV002704255 uncertain significance Cardiovascular phenotype 2022-01-07 criteria provided, single submitter clinical testing The p.H541L variant (also known as c.1622A>T), located in coding exon 8 of the JUP gene, results from an A to T substitution at nucleotide position 1622. The histidine at codon 541 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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