ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6020A>G (p.Gln2007Arg)

gnomAD frequency: 0.00001  dbSNP: rs1047348249
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558186 SCV000631792 uncertain significance Alstrom syndrome 2022-10-21 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 2008 of the ALMS1 protein (p.Gln2008Arg). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 459876). 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 arginine 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 RCV002358477 SCV002657644 uncertain significance Cardiovascular phenotype 2022-11-21 criteria provided, single submitter clinical testing The p.Q2008R variant (also known as c.6023A>G), located in coding exon 8 of the ALMS1 gene, results from an A to G substitution at nucleotide position 6023. The glutamine at codon 2008 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is 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.
Natera, Inc. RCV000558186 SCV002082816 uncertain significance Alstrom syndrome 2021-03-31 no assertion criteria provided clinical testing

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