ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.431G>A (p.Arg144His)

dbSNP: rs1167554487
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001770811 SCV001992867 uncertain significance not provided 2019-06-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Ambry Genetics RCV002329728 SCV002632099 uncertain significance Cardiovascular phenotype 2020-12-04 criteria provided, single submitter clinical testing The p.R144H variant (also known as c.431G>A), located in coding exon 2 of the JPH2 gene, results from a G to A substitution at nucleotide position 431. The arginine at codon 144 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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