ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.633C>T (p.Asn211=)

gnomAD frequency: 0.00036  dbSNP: rs372145644
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154728 SCV000204408 likely benign not specified 2014-11-17 criteria provided, single submitter clinical testing p.Asn211Asn in exon 4 of JUP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 0.1% (2/3738) of Africa n American chromosomes from a broad population by the NHLBI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS; dbSNP rs372145644).
GeneDx RCV000154728 SCV000513311 benign not specified 2016-03-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000645219 SCV000766961 benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-01-08 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000154728 SCV002073398 likely benign not specified 2022-01-14 criteria provided, single submitter clinical testing This is a synonymous variant occurring in gnomAD with a total MAF of 0.0070% and highest MAF of 0.1002%. This position is not strongly conserved and this variant is not predicted to impact splicing as it is located 75bp from the nearest splice site. This variant is not present in the literature in association with disease. Considering the evidence, this variant is Likely Benign.
Ambry Genetics RCV002354366 SCV002654699 likely benign Cardiovascular phenotype 2019-04-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003965151 SCV004782691 likely benign JUP-related disorder 2022-04-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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