ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1772_1777dup (p.Ser592_Glu593insGlySer)

dbSNP: rs761938315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002401840 SCV002714762 uncertain significance Cardiovascular phenotype 2021-12-01 criteria provided, single submitter clinical testing The c.1772_1777dupGGTCCG variant (also known as p.G591_S592dup), located in coding exon 4 of the JPH2 gene, results from an in-frame duplication of GGTCCG at nucleotide positions 1772 to 1777. This results in the duplication of 2 extra residues (GS) between codons 591 and 592. This amino acid region is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005058692 SCV005692498 uncertain significance Hypertrophic cardiomyopathy 2024-05-22 criteria provided, single submitter clinical testing This variant, c.1772_1777dup, results in the insertion of 2 amino acid(s) of the JPH2 protein (p.Gly591_Ser592dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs761938315, gnomAD 0.006%). 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: 1779814). 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.

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