Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045896 | SCV001209771 | uncertain significance | Alstrom syndrome | 2022-08-07 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 218 of the ALMS1 protein (p.Ile218Met). This variant is present in population databases (rs774831792, gnomAD 0.006%), including at least one homozygous and/or hemizygous individual. 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: 843302). 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. |
Ambry Genetics | RCV002363596 | SCV002660874 | uncertain significance | Cardiovascular phenotype | 2019-05-20 | criteria provided, single submitter | clinical testing | The p.I218M variant (also known as c.654A>G), located in coding exon 4 of the ALMS1 gene, results from an A to G substitution at nucleotide position 654. The isoleucine at codon 218 is replaced by methionine, 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. |
Fulgent Genetics, |
RCV001045896 | SCV002784466 | uncertain significance | Alstrom syndrome | 2021-11-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001045896 | SCV001457868 | uncertain significance | Alstrom syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |