Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Blueprint Genetics | RCV000208272 | SCV000263958 | uncertain significance | Primary dilated cardiomyopathy | 2015-11-24 | criteria provided, single submitter | clinical testing | |
| SIB Swiss Institute of Bioinformatics | RCV001572616 | SCV002319194 | uncertain significance | Cardiomyopathy, dilated, 2E | 2022-02-23 | criteria provided, single submitter | curation | This variant is interpreted as a variant of uncertain significance for Cardiomyopathy, dilated, 2E, autosomal recessive. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Predicted nullvariant in a gene where LOF is a known mechanism of disease (PVS1 downgraded to moderate). |
| Fulgent Genetics, |
RCV002478749 | SCV002781700 | uncertain significance | Hypertrophic cardiomyopathy 17; Cardiomyopathy, dilated, 2E | 2021-07-13 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003298273 | SCV004000708 | uncertain significance | Cardiovascular phenotype | 2023-05-17 | criteria provided, single submitter | clinical testing | The p.Q428* variant (also known as c.1282C>T), located in coding exon 3 of the JPH2 gene, results from a C to T substitution at nucleotide position 1282. This changes the amino acid from a glutamine to a stop codon within coding exon 3. This variant has been detected in the homozygous state in a pediatric case with severe dilated cardiomyopathy requiring transplant; heterozygous relatives were indicated as unaffected (Vasilescu C et al. J Am Coll Cardiol, 2018 Nov;72:2324-2338). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Although biallelic loss of function alterations in JPH2 have been associated with autosomal recessive dilated cardiomyopathy, haploinsufficiency for JPH2 has not been clearly established as a mechanism of disease for autosomal dominant hypertrophic cardiomyopathy. Based on the supporting evidence, this variant is expected to be causative of autosomal recessive dilated cardiomyopathy when present along with a second pathogenic variant on the other allele; however, its clinical significance for autosomal dominant hypertrophic cardiomyopathy is unclear. |
| OMIM | RCV001572616 | SCV001797289 | pathogenic | Cardiomyopathy, dilated, 2E | 2021-08-18 | no assertion criteria provided | literature only |