ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10973G>A (p.Arg3658Gln)

gnomAD frequency: 0.00001  dbSNP: rs781344338
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664700 SCV000788703 uncertain significance Alstrom syndrome 2017-01-05 criteria provided, single submitter clinical testing
GeneDx RCV001561662 SCV001784302 uncertain significance not provided 2020-07-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV000664700 SCV002791303 uncertain significance Alstrom syndrome 2022-02-03 criteria provided, single submitter clinical testing
Invitae RCV000664700 SCV003290341 uncertain significance Alstrom syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 3659 of the ALMS1 protein (p.Arg3659Gln). This variant is present in population databases (rs781344338, gnomAD 0.04%). 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: 550072). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV003163055 SCV003912816 uncertain significance Cardiovascular phenotype 2022-11-03 criteria provided, single submitter clinical testing The p.R3659Q variant (also known as c.10976G>A), located in coding exon 16 of the ALMS1 gene, results from a G to A substitution at nucleotide position 10976. The arginine at codon 3659 is replaced by glutamine, an amino acid with highly similar 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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