ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6359A>G (p.Lys2120Arg)

gnomAD frequency: 0.00001  dbSNP: rs745919138
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472223 SCV000541325 uncertain significance Alstrom syndrome 2022-08-21 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 2121 of the ALMS1 protein (p.Lys2121Arg). This variant is present in population databases (rs745919138, 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: 403922). 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 RCV002365585 SCV002657389 uncertain significance Cardiovascular phenotype 2021-01-08 criteria provided, single submitter clinical testing The p.K2121R variant (also known as c.6362A>G), located in coding exon 8 of the ALMS1 gene, results from an A to G substitution at nucleotide position 6362. The lysine at codon 2121 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. RCV000472223 SCV002082827 uncertain significance Alstrom syndrome 2021-06-30 no assertion criteria provided clinical testing

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