ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2726C>G (p.Ser909Ter)

dbSNP: rs746640196
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000171294 SCV000221491 likely pathogenic not provided criteria provided, single submitter research
GeneDx RCV000171294 SCV002513645 pathogenic not provided 2022-05-11 criteria provided, single submitter clinical testing Reported as homozygous in two siblings of Saudi ancestry with Alstrom syndrome who were also homozygous for a missense variant in ALMS1; familial studies suggest the two variants may be present on the same allele (in cis) in each parent (Kamal et al., 2020); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Also known as p.(S909*) and p.(S908*) using alternate nomenclature; This variant is associated with the following publications: (PMID: Gosadi2021, 35112413, 30488743, 33981653, 31889847)

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