ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1430C>A (p.Thr477Asn)

dbSNP: rs1442070249
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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 RCV002999736 SCV003302565 uncertain significance Hypertrophic cardiomyopathy 2022-05-08 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 477 of the JPH2 protein (p.Thr477Asn).
Ambry Genetics RCV004068502 SCV005027948 uncertain significance Cardiovascular phenotype 2023-11-27 criteria provided, single submitter clinical testing The p.T477N variant (also known as c.1430C>A), located in coding exon 4 of the JPH2 gene, results from a C to A substitution at nucleotide position 1430. The threonine at codon 477 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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