ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1424G>A (p.Arg475His)

gnomAD frequency: 0.00079  dbSNP: rs765754956
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721141 SCV000235934 likely benign not provided 2020-06-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a likely benign variant (ClinVar Variant ID#201803; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function
Invitae RCV000528093 SCV000623873 likely benign Hypertrophic cardiomyopathy 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618523 SCV000736531 uncertain significance Cardiovascular phenotype 2021-07-26 criteria provided, single submitter clinical testing The c.1424G>A (p.R475H) alteration is located in exon 4 (coding exon 4) of the JPH2 gene. This alteration results from a G to A substitution at nucleotide position 1424, causing the arginine (R) at amino acid position 475 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852951 SCV000995698 likely benign Cardiomyopathy 2019-04-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947546 SCV004769335 likely benign JPH2-related disorder 2019-11-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000183474 SCV001922863 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000183474 SCV001969039 benign not specified no assertion criteria provided clinical testing

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