ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.-4C>T

gnomAD frequency: 0.00002  dbSNP: rs782493861
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430488 SCV000531452 likely benign not specified 2016-08-30 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.
Ambry Genetics RCV002339074 SCV002641779 uncertain significance Cardiovascular phenotype 2019-07-26 criteria provided, single submitter clinical testing The c.-4C>T variant is located in the 5' untranslated region (5’ UTR) of the JUP gene. This variant results from a C to T substitution 4 bases upstream from the first translated codon. This nucleotide position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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