Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000442292 | SCV000533649 | uncertain significance | not provided | 2022-06-08 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |
Counsyl | RCV000670211 | SCV000795041 | uncertain significance | Alstrom syndrome | 2017-10-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000670211 | SCV001236497 | uncertain significance | Alstrom syndrome | 2022-10-24 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 4085 of the ALMS1 protein (p.Arg4085Met). This variant is present in population databases (rs375314465, 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: 390736). 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 | RCV002365561 | SCV002660771 | uncertain significance | Cardiovascular phenotype | 2023-09-07 | criteria provided, single submitter | clinical testing | The p.R4085M variant (also known as c.12254G>T), located in coding exon 20 of the ALMS1 gene, results from a G to T substitution at nucleotide position 12254. The arginine at codon 4085 is replaced by methionine, an amino acid with similar properties. This variant has been detected in the heterozygous state in an individual from a suspected Alstrom syndrome cohrot; however, additional details were limited (Marshall JD et al. Hum Mutat. 2015 Jul;36(7):660-8). This amino acid position is poorly 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, |
RCV000670211 | SCV002790002 | uncertain significance | Alstrom syndrome | 2022-03-10 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000670211 | SCV001455034 | uncertain significance | Alstrom syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |