ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu)

dbSNP: rs146669152
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668361 SCV000792946 uncertain significance Alstrom syndrome 2017-08-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001175496 SCV001339091 uncertain significance not specified 2020-03-23 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.5825G>T (p.Arg1942Leu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.2e-05 in 248962 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.5825G>T in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cites the variant uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
GeneDx RCV001569834 SCV001793990 uncertain significance not provided 2020-06-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 553000; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Invitae RCV000668361 SCV002193319 uncertain significance Alstrom syndrome 2024-01-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 1944 of the ALMS1 protein (p.Arg1944Leu). This variant is present in population databases (rs146669152, gnomAD 0.05%). 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: 553000). 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 RCV002352092 SCV002647739 uncertain significance Cardiovascular phenotype 2022-04-25 criteria provided, single submitter clinical testing The p.R1944L variant (also known as c.5831G>T), located in coding exon 8 of the ALMS1 gene, results from a G to T substitution at nucleotide position 5831. The arginine at codon 1944 is replaced by leucine, an amino acid with dissimilar properties. 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.

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