ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.228G>A (p.Met76Ile)

dbSNP: rs202091411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001923502 SCV002192925 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-03-07 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with JUP-related conditions. This variant is present in population databases (rs202091411, ExAC 0.002%). This sequence change replaces methionine with isoleucine at codon 76 of the JUP protein (p.Met76Ile). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and isoleucine.
Fulgent Genetics, Fulgent Genetics RCV001923502 SCV002792942 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004043556 SCV003983645 uncertain significance Cardiovascular phenotype 2023-05-30 criteria provided, single submitter clinical testing The c.228G>A (p.M76I) alteration is located in exon 3 (coding exon 2) of the JUP gene. This alteration results from a G to A substitution at nucleotide position 228, causing the methionine (M) at amino acid position 76 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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