ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12251G>T (p.Arg4084Met)

gnomAD frequency: 0.00013  dbSNP: rs375314465
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
GeneDx 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, Fulgent Genetics RCV000670211 SCV002790002 uncertain significance Alstrom syndrome 2022-03-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV000670211 SCV001455034 uncertain significance Alstrom syndrome 2020-09-16 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.