ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1787C>T (p.Pro596Leu)

gnomAD frequency: 0.00004  dbSNP: rs1376826403
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001231361 SCV001403881 uncertain significance Hypertrophic cardiomyopathy 2022-03-08 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 596 of the JPH2 protein (p.Pro596Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with JPH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 958239). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004033123 SCV003954224 uncertain significance Cardiovascular phenotype 2023-05-17 criteria provided, single submitter clinical testing The c.1787C>T (p.P596L) alteration is located in exon 4 (coding exon 4) of the JPH2 gene. This alteration results from a C to T substitution at nucleotide position 1787, causing the proline (P) at amino acid position 596 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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