Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595407 | SCV000705445 | uncertain significance | not provided | 2017-02-15 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000664857 | SCV000788878 | uncertain significance | Alstrom syndrome | 2017-03-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000664857 | SCV000942023 | uncertain significance | Alstrom syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 3198 of the ALMS1 protein (p.Ser3198Thr). This variant is present in population databases (rs369682692, gnomAD 0.06%). This missense change has been observed in individual(s) with clinical feature of ALMS1-related conditions (PMID: 25468891). This variant is also known as c.9586T>A, p.Ser3196Thr. ClinVar contains an entry for this variant (Variation ID: 499779). 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. |
Gene |
RCV000595407 | SCV001789704 | uncertain significance | not provided | 2023-11-06 | criteria provided, single submitter | clinical testing | Observed in the presence of two other ALMS1 variants, phase unknown, in a patient of Puerto Rican background with congenital hearing loss, retinitis pigmentosa, delalyed walking, and a clinical diagnosis of Usher syndrome type I (PMID: 25468891); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as p.(S3196T); This variant is associated with the following publications: (PMID: 25468891) |
Ambry Genetics | RCV002377234 | SCV002690821 | uncertain significance | Cardiovascular phenotype | 2021-10-20 | criteria provided, single submitter | clinical testing | The p.S3198T variant (also known as c.9592T>A), located in coding exon 11 of the ALMS1 gene, results from a T to A substitution at nucleotide position 9592. The serine at codon 3198 is replaced by threonine, an amino acid with similar properties. This variant (referred to as p.S3196T, c.9586T>A) was reportedly detected in the heterozygous state in an individual from an Usher syndrome type 1 cohort; however, details were limited (Bujakowska KM et al. Invest Ophthalmol Vis Sci. 2014 Dec;55(12):8488-96). 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. |
Fulgent Genetics, |
RCV000664857 | SCV002775071 | uncertain significance | Alstrom syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000664857 | SCV002078942 | uncertain significance | Alstrom syndrome | 2020-08-13 | no assertion criteria provided | clinical testing |