ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp)

gnomAD frequency: 0.00026  dbSNP: rs377130177
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
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, Fulgent Genetics RCV000665728 SCV002786293 uncertain significance Alstrom syndrome 2022-03-15 criteria provided, single submitter clinical testing
GeneDx 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, Inc. RCV000665728 SCV002079021 uncertain significance Alstrom syndrome 2020-08-13 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.