ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.361G>A (p.Glu121Lys)

dbSNP: rs1569226231
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000702901 SCV000831776 uncertain significance Hypertrophic cardiomyopathy 2018-04-15 criteria provided, single submitter clinical testing 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This sequence change replaces glutamic acid with lysine at codon 121 of the JPH2 protein (p.Glu121Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with JPH2-related disease. 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.
Fulgent Genetics, Fulgent Genetics RCV002485738 SCV002785879 uncertain significance Hypertrophic cardiomyopathy 17; Cardiomyopathy, dilated, 2E 2021-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003362912 SCV004053105 uncertain significance Cardiovascular phenotype 2023-07-06 criteria provided, single submitter clinical testing The p.E121K variant (also known as c.361G>A), located in coding exon 1 of the JPH2 gene, results from a G to A substitution at nucleotide position 361. The glutamic acid at codon 121 is replaced by lysine, an amino acid with 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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