Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001364940 | SCV001561147 | uncertain significance | Alstrom syndrome | 2020-03-06 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with ALMS1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 3227 of the ALMS1 protein (p.Gly3227Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. |
Ambry Genetics | RCV002377527 | SCV002690538 | uncertain significance | Cardiovascular phenotype | 2020-01-16 | criteria provided, single submitter | clinical testing | The p.G3227E variant (also known as c.9680G>A), located in coding exon 11 of the ALMS1 gene, results from a G to A substitution at nucleotide position 9680. The glycine at codon 3227 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and glutamic acid is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |