ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5558A>G (p.Gln1853Arg)

gnomAD frequency: 0.00001  dbSNP: rs574696548
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001360924 SCV001556880 uncertain significance Alstrom syndrome 2022-07-06 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 1854 of the ALMS1 protein (p.Gln1854Arg). This variant is present in population databases (rs574696548, gnomAD 0.01%). 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: 1052694). 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 RCV002350677 SCV002654077 uncertain significance Cardiovascular phenotype 2023-06-22 criteria provided, single submitter clinical testing The p.Q1854R variant (also known as c.5561A>G), located in coding exon 8 of the ALMS1 gene, results from an A to G substitution at nucleotide position 5561. The glutamine at codon 1854 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not 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. RCV001360924 SCV002080533 uncertain significance Alstrom syndrome 2021-03-29 no assertion criteria provided clinical testing

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