ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9173A>G (p.Lys3058Arg)

gnomAD frequency: 0.00004  dbSNP: rs149329669
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669049 SCV000793748 uncertain significance Alstrom syndrome 2017-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442397 SCV002683260 uncertain significance Cardiovascular phenotype 2019-10-01 criteria provided, single submitter clinical testing The p.K3059R variant (also known as c.9176A>G), located in coding exon 10 of the ALMS1 gene, results from an A to G substitution at nucleotide position 9176. The lysine at codon 3059 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.
Fulgent Genetics, Fulgent Genetics RCV000669049 SCV002800110 uncertain significance Alstrom syndrome 2022-03-28 criteria provided, single submitter clinical testing
Invitae RCV000669049 SCV002936682 uncertain significance Alstrom syndrome 2022-05-31 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 3059 of the ALMS1 protein (p.Lys3059Arg). This variant is present in population databases (rs149329669, 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: 553571). 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.
CeGaT Center for Human Genetics Tuebingen RCV003884701 SCV004702716 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing ALMS1: PM2

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