ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.2083_2084del (p.Leu695fs)

dbSNP: rs2515716895
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002423904 SCV002729880 uncertain significance Cardiovascular phenotype 2020-10-22 criteria provided, single submitter clinical testing The c.2083_2084delCT variant, located in coding exon 5 of the JPH2 gene, results from a deletion of two nucleotides at nucleotide positions 2083 to 2084, causing a translational frameshift with a predicted alternate stop codon (p.L695Dfs*16). This alteration occurs at the 3' terminus of theJPH2 gene, is not expected to trigger nonsense-mediated mRNAdecay and results in the elongation of the protein by thirteen amino acids. This frameshift impacts the last twoamino acids of the native protein. The exact functional effect of the altered amino acids is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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