Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Personalized Diabetes Medicine Program, |
RCV000445456 | SCV000536983 | likely benign | Monogenic diabetes | 2016-06-07 | criteria provided, single submitter | research | ACMG Criteria: PP3, BP1, BP4 |
Counsyl | RCV000667911 | SCV000792435 | uncertain significance | Alstrom syndrome | 2017-06-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000667911 | SCV001543688 | uncertain significance | Alstrom syndrome | 2022-07-04 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 2754 of the ALMS1 protein (p.His2754Asn). This variant is present in population databases (rs200718841, gnomAD 0.01%). 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: 393376). 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 | RCV003168711 | SCV003912794 | uncertain significance | Cardiovascular phenotype | 2023-03-08 | criteria provided, single submitter | clinical testing | The p.H2754N variant (also known as c.8260C>A), located in coding exon 10 of the ALMS1 gene, results from a C to A substitution at nucleotide position 8260. The histidine at codon 2754 is replaced by asparagine, an amino acid with 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. |
Clinical Genomics, |
RCV000667911 | SCV003928174 | 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 rs200718841 in Alstrom syndrome yet. | |
Natera, |
RCV000667911 | SCV002082900 | uncertain significance | Alstrom syndrome | 2021-08-23 | no assertion criteria provided | clinical testing |