ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1862T>C (p.Ile621Thr)

gnomAD frequency: 0.00009  dbSNP: rs752594411
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171957 SCV000050949 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000171957 SCV000235964 uncertain significance not provided 2017-04-18 criteria provided, single submitter clinical testing The I621T variant of uncertain significance in the JUP gene has not been published as pathogenic or been reported as benign to our knowledge. The I621T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, to our knowledge no studies have been performed to determine the functional effect of the I621T variant. Furthermore, the I621T variant was observed in 8/8,426 alleles from individuals of East Asian ancestry, 5/5,786 alleles from individuals of European (Finnish) ancestry, and 6/64,012 alleles from individuals of European (Non-Finnish) ancestry in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016).
Fulgent Genetics, Fulgent Genetics RCV000765351 SCV000896616 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-09-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000171957 SCV001151289 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000765351 SCV001535967 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408745 SCV002723365 benign Cardiovascular phenotype 2022-08-09 criteria provided, single submitter clinical testing This alteration is classified as 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.

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