ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7359G>T (p.Lys2453Asn)

gnomAD frequency: 0.00006  dbSNP: rs1400122858
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666164 SCV000790410 uncertain significance Alstrom syndrome 2017-03-20 criteria provided, single submitter clinical testing
Invitae RCV000666164 SCV001555244 uncertain significance Alstrom syndrome 2022-07-14 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 2454 of the ALMS1 protein (p.Lys2454Asn). This variant is present in population databases (no rsID available, 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: 551177). 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.
Fulgent Genetics, Fulgent Genetics RCV000666164 SCV002788558 uncertain significance Alstrom syndrome 2022-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003380664 SCV004096684 uncertain significance Cardiovascular phenotype 2023-06-23 criteria provided, single submitter clinical testing The p.K2454N variant (also known as c.7362G>T), located in coding exon 8 of the ALMS1 gene, results from a G to T substitution at nucleotide position 7362. The lysine at codon 2454 is replaced by asparagine, an amino acid with 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. RCV000666164 SCV002082865 uncertain significance Alstrom syndrome 2020-07-21 no assertion criteria provided clinical testing

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