ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1365C>T (p.Ala455=)

gnomAD frequency: 0.00013  dbSNP: rs77375949
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Total submissions: 7
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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 RCV000150848 SCV000198401 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ala455Ala in Exon 08 of JUP: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 1/3738 African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs77375949).
GeneDx RCV000150848 SCV000513313 benign not specified 2015-05-05 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 RCV000867784 SCV001009046 benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381467 SCV002702917 likely benign Cardiovascular phenotype 2019-10-10 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 RCV003952716 SCV004772412 likely benign JUP-related disorder 2019-05-06 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).
Clinical Genetics, Academic Medical Center RCV000150848 SCV001926057 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701686 SCV001931856 likely benign not provided no assertion criteria provided clinical testing

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