Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669049 | SCV000793748 | uncertain significance | Alstrom syndrome | 2017-08-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442397 | SCV002683260 | uncertain significance | Cardiovascular phenotype | 2019-10-01 | criteria provided, single submitter | clinical testing | The p.K3059R variant (also known as c.9176A>G), located in coding exon 10 of the ALMS1 gene, results from an A to G substitution at nucleotide position 9176. The lysine at codon 3059 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well 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. |
Fulgent Genetics, |
RCV000669049 | SCV002800110 | uncertain significance | Alstrom syndrome | 2022-03-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000669049 | SCV002936682 | uncertain significance | Alstrom syndrome | 2022-05-31 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 3059 of the ALMS1 protein (p.Lys3059Arg). This variant is present in population databases (rs149329669, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 553571). 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. |
Ce |
RCV003884701 | SCV004702716 | uncertain significance | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | ALMS1: PM2 |