Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669399 | SCV000794148 | uncertain significance | Alstrom syndrome | 2017-09-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000669399 | SCV002131877 | uncertain significance | Alstrom syndrome | 2022-09-07 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with cysteine at codon 714 of the ALMS1 protein (p.Ser714Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs771496254, gnomAD 0.003%). 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: 553868). 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 | RCV002424574 | SCV002729267 | uncertain significance | Cardiovascular phenotype | 2020-12-15 | criteria provided, single submitter | clinical testing | The p.S714C variant (also known as c.2141C>G), located in coding exon 8 of the ALMS1 gene, results from a C to G substitution at nucleotide position 2141. The serine at codon 714 is replaced by cysteine, an amino acid with dissimilar 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. |