Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000704815 | SCV000833783 | uncertain significance | Hypertrophic cardiomyopathy | 2022-05-26 | 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. ClinVar contains an entry for this variant (Variation ID: 581091). This premature translational stop signal has been observed in individual(s) with dilated cardiomyopathy (PMID: 25163546). This sequence change creates a premature translational stop signal (p.Arg1303*) in the MYH7 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYH7 cause disease. This variant is present in population databases (no rsID available, gnomAD 0.0009%). |
| Gene |
RCV001775977 | SCV002012579 | uncertain significance | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing | Reported in a cohort of patients with sporadic or familial dilated cardiomyopathy, but detailed clinical and segregation information were not provided (Haas et al., 2015); Not observed at significant frequency in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; This variant is associated with the following publications: (PMID: 25163546) |
| Ambry Genetics | RCV002369957 | SCV002623944 | uncertain significance | Cardiovascular phenotype | 2021-03-30 | criteria provided, single submitter | clinical testing | The p.R1303* variant (also known as c.3907C>T), located in coding exon 27 of the MYH7 gene, results from a C to T substitution at nucleotide position 3907. This changes the amino acid from an arginine to a stop codon within coding exon 27. This variant has been reported in a dilated cardiomyopathy cohort; however, clinical details were limited (Haas J et al. Eur Heart J, 2015 May;36:1123-35a). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of MYH7 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |