Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665728 | SCV000789894 | uncertain significance | Alstrom syndrome | 2017-03-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000665728 | SCV000957733 | uncertain significance | Alstrom syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 3877 of the ALMS1 protein (p.Asn3877Asp). This variant is present in population databases (rs377130177, gnomAD 0.06%). This missense change has been observed in individual(s) with clinical features of ALMS1-related disease (PMID: 25468891). This variant is also known as c.11623A>G, p.Asn3875Asp. ClinVar contains an entry for this variant (Variation ID: 550857). 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 | RCV002352085 | SCV002620831 | uncertain significance | Cardiovascular phenotype | 2021-10-20 | criteria provided, single submitter | clinical testing | The p.N3877D variant (also known as c.11629A>G), located in coding exon 17 of the ALMS1 gene, results from an A to G substitution at nucleotide position 11629. The asparagine at codon 3877 is replaced by aspartic acid, an amino acid with highly similar properties. This variant (referred to as p.N3875D, c.11623A>G) 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 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. |
Fulgent Genetics, |
RCV000665728 | SCV002786293 | uncertain significance | Alstrom syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003148821 | SCV003836828 | uncertain significance | not provided | 2023-02-23 | criteria provided, single submitter | clinical testing | Reported 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 (Bujakowska et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as p.N3875D; This variant is associated with the following publications: (PMID: 25468891) |
Natera, |
RCV000665728 | SCV002079021 | uncertain significance | Alstrom syndrome | 2020-08-13 | no assertion criteria provided | clinical testing |