Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Personalized Diabetes Medicine Program, |
RCV000445492 | SCV000536975 | uncertain significance | Monogenic diabetes | 2015-10-16 | criteria provided, single submitter | research | ACMG Criteria: PP3, BP4 |
Counsyl | RCV000665779 | SCV000789951 | uncertain significance | Alstrom syndrome | 2017-02-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000665779 | SCV001225738 | uncertain significance | Alstrom syndrome | 2022-09-06 | 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 1998 of the ALMS1 protein (p.Lys1998Arg). This variant is present in population databases (rs150331660, gnomAD 0.03%). 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: 393374). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
Ambry Genetics | RCV002356627 | SCV002658773 | uncertain significance | Cardiovascular phenotype | 2020-01-02 | criteria provided, single submitter | clinical testing | The p.K1998R variant (also known as c.5993A>G), located in coding exon 8 of the ALMS1 gene, results from an A to G substitution at nucleotide position 5993. The lysine at codon 1998 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not 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. |
Clinical Genomics, |
RCV000665779 | SCV003928144 | uncertain significance | Alstrom syndrome | criteria provided, single submitter | research | Potent mutations in ALMS1 are associated with a rare condition called Alstrom syndrome. It can cause excessive eating, insulin resistance. However, no evidence is found to ascertain the role of rs150331660 in Alstrom syndrome yet. | |
Natera, |
RCV000665779 | SCV002080545 | uncertain significance | Alstrom syndrome | 2021-01-07 | no assertion criteria provided | clinical testing |