Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000634781 | SCV000756124 | uncertain significance | Alstrom syndrome | 2022-02-05 | 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 3546 of the ALMS1 protein (p.Ile3546Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 529373). 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 | RCV002406358 | SCV002716275 | uncertain significance | Cardiovascular phenotype | 2021-07-20 | criteria provided, single submitter | clinical testing | The p.I3546M variant (also known as c.10638A>G), located in coding exon 16 of the ALMS1 gene, results from an A to G substitution at nucleotide position 10638. The isoleucine at codon 3546 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. |
Natera, |
RCV000634781 | SCV002078982 | uncertain significance | Alstrom syndrome | 2019-10-28 | no assertion criteria provided | clinical testing |