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

gnomAD frequency: 0.00079  dbSNP: rs765754956

Total submissions: 8

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
Labcorp Genetics (formerly Invitae), Labcorp	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
Breakthrough Genomics, Breakthrough Genomics	RCV001721141	SCV005208714	likely benign	not provided		criteria provided, single submitter	not provided
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
PreventionGenetics, part of Exact Sciences	RCV003947546	SCV004769335	likely benign	JPH2-related disorder	2019-11-26	no assertion criteria provided	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).