Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001978974 | SCV002217741 | uncertain significance | Dilated cardiomyopathy 1KK | 2021-04-21 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MYPN-related conditions. This variant is present in population databases (rs758614811, ExAC 0.006%). This sequence change replaces leucine with histidine at codon 785 of the MYPN protein (p.Leu785His). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and histidine. |
Ambry Genetics | RCV004651860 | SCV005146221 | uncertain significance | Cardiovascular phenotype | 2024-06-03 | criteria provided, single submitter | clinical testing | The p.L785H variant (also known as c.2354T>A), located in coding exon 10 of the MYPN gene, results from a T to A substitution at nucleotide position 2354. The leucine at codon 785 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |