ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11284G>A (p.Glu3762Lys)

gnomAD frequency: 0.00001  dbSNP: rs1243181452
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671839 SCV000796866 uncertain significance Alstrom syndrome 2018-01-03 criteria provided, single submitter clinical testing
Invitae RCV000671839 SCV001387018 uncertain significance Alstrom syndrome 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 3763 of the ALMS1 protein (p.Glu3763Lys). 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: 555919). 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 RCV002319551 SCV002608635 uncertain significance Cardiovascular phenotype 2022-08-11 criteria provided, single submitter clinical testing The p.E3763K variant (also known as c.11287G>A), located in coding exon 16 of the ALMS1 gene, results from a G to A substitution at nucleotide position 11287. The glutamic acid at codon 3763 is replaced by lysine, 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. RCV000671839 SCV002079001 uncertain significance Alstrom syndrome 2020-09-09 no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000671839 SCV004228929 not provided Alstrom syndrome no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 02-25-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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