Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000618244 | SCV000735964 | uncertain significance | Cardiovascular phenotype | 2023-03-02 | criteria provided, single submitter | clinical testing | The p.I533N variant (also known as c.1598T>A), located in coding exon 14 of the MYH7 gene, results from a T to A substitution at nucleotide position 1598. The isoleucine at codon 533 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Laboratory for Molecular Medicine, |
RCV000035733 | SCV000059384 | uncertain significance | not specified | 2014-01-02 | no assertion criteria provided | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |