ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11033G>A (p.Arg3678Gln)

gnomAD frequency: 0.00010  dbSNP: rs371007945
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240509 SCV001413460 uncertain significance Alstrom syndrome 2022-08-09 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 3679 of the ALMS1 protein (p.Arg3679Gln). This variant is present in population databases (rs371007945, 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: 965946). 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 RCV002436947 SCV002745078 uncertain significance Cardiovascular phenotype 2023-07-27 criteria provided, single submitter clinical testing The p.R3679Q variant (also known as c.11036G>A), located in coding exon 16 of the ALMS1 gene, results from a G to A substitution at nucleotide position 11036. The arginine at codon 3679 is replaced by glutamine, 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.
Fulgent Genetics, Fulgent Genetics RCV001240509 SCV002783616 uncertain significance Alstrom syndrome 2022-01-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001240509 SCV002078994 uncertain significance Alstrom syndrome 2020-02-19 no assertion criteria provided clinical testing

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