Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669178 | SCV000793903 | uncertain significance | Alstrom syndrome | 2017-09-12 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000728513 | SCV000856097 | uncertain significance | not provided | 2017-08-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343419 | SCV002650247 | uncertain significance | Cardiovascular phenotype | 2021-10-26 | criteria provided, single submitter | clinical testing | The p.D4013E variant (also known as c.12039C>A), located in coding exon 19 of the ALMS1 gene, results from a C to A substitution at nucleotide position 12039. The aspartic acid at codon 4013 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is poorly conserved in available 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. |
Invitae | RCV000669178 | SCV003256835 | uncertain significance | Alstrom syndrome | 2021-08-05 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with glutamic acid at codon 4013 of the ALMS1 protein (p.Asp4013Glu). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is present in population databases (rs370981817, ExAC 0.05%). This variant has not been reported in the literature in individuals with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 553675). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |