ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5484G>T (p.Leu1828Phe)

gnomAD frequency: 0.00001  dbSNP: rs376996058
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670300 SCV000795135 uncertain significance Alstrom syndrome 2017-10-27 criteria provided, single submitter clinical testing
GeneDx RCV001553212 SCV001774038 uncertain significance not provided 2020-06-01 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002343422 SCV002648206 uncertain significance Cardiovascular phenotype 2022-09-27 criteria provided, single submitter clinical testing The p.L1829F variant (also known as c.5487G>T), located in coding exon 8 of the ALMS1 gene, results from a G to T substitution at nucleotide position 5487. The leucine at codon 1829 is replaced by phenylalanine, 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. RCV000670300 SCV002080532 uncertain significance Alstrom syndrome 2019-10-28 no assertion criteria provided clinical testing

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