ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4795A>G (p.Ile1599Val)

gnomAD frequency: 0.00003  dbSNP: rs377671796
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685205 SCV000812678 uncertain significance Alstrom syndrome 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1600 of the ALMS1 protein (p.Ile1600Val). This variant is present in population databases (rs377671796, 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: 565607). 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 valine 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 RCV002334248 SCV002639544 uncertain significance Cardiovascular phenotype 2023-06-21 criteria provided, single submitter clinical testing The p.I1600V variant (also known as c.4798A>G), located in coding exon 8 of the ALMS1 gene, results from an A to G substitution at nucleotide position 4798. The isoleucine at codon 1600 is replaced by valine, 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.
GeneDx RCV002466561 SCV002762003 uncertain significance not provided 2022-06-06 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 RCV000685205 SCV002796926 uncertain significance Alstrom syndrome 2022-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000685205 SCV001455452 uncertain significance Alstrom syndrome 2020-01-24 no assertion criteria provided clinical testing

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