ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.949G>A (p.Glu317Lys)

dbSNP: rs1054295023
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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 RCV001306455 SCV001495827 uncertain significance Hypertrophic cardiomyopathy 2022-11-01 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 1009029). This variant has not been reported in the literature in individuals affected with JPH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 317 of the JPH2 protein (p.Glu317Lys).
Fulgent Genetics, Fulgent Genetics RCV002493608 SCV002794481 uncertain significance Hypertrophic cardiomyopathy 17; Cardiomyopathy, dilated, 2E 2021-09-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003284162 SCV004004109 uncertain significance Cardiovascular phenotype 2023-06-15 criteria provided, single submitter clinical testing The p.E317K variant (also known as c.949G>A), located in coding exon 2 of the JPH2 gene, results from a G to A substitution at nucleotide position 949. The glutamic acid at codon 317 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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