ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.-4T>A

gnomAD frequency: 0.00001  dbSNP: rs761140357
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002343064 SCV002644515 uncertain significance Cardiovascular phenotype 2023-02-15 criteria provided, single submitter clinical testing The c.-4T>A variant is located in the 5' untranslated region (5’ UTR) of the JPH2 gene. This variant results from a T to A substitution 4 bases upstream from the first translated codon. This nucleotide position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331352 SCV004038210 uncertain significance not specified 2023-08-19 criteria provided, single submitter clinical testing
GeneDx RCV005051962 SCV005685852 uncertain significance not provided 2024-07-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Located in the 3' untranslated region (UTR); in the absence of functional studies, the actual effect of this sequence change is unknown; No regulatory variants in the JPH2 gene have been reported in HGMD in association with JPH2-related disorders (HGMD)

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