ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5466T>A (p.His1822Gln)

gnomAD frequency: 0.00014  dbSNP: rs201677365
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044710 SCV001208521 uncertain significance Alstrom syndrome 2022-10-26 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1823 of the ALMS1 protein (p.His1823Gln). This variant is present in population databases (rs201677365, gnomAD 0.02%). 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: 842311). 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 RCV002348368 SCV002651175 uncertain significance Cardiovascular phenotype 2022-07-14 criteria provided, single submitter clinical testing The p.H1823Q variant (also known as c.5469T>A), located in coding exon 8 of the ALMS1 gene, results from a T to A substitution at nucleotide position 5469. The histidine at codon 1823 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.
Fulgent Genetics, Fulgent Genetics RCV001044710 SCV002784467 uncertain significance Alstrom syndrome 2021-11-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001044710 SCV001455456 uncertain significance Alstrom syndrome 2020-01-17 no assertion criteria provided clinical testing

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