ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) (rs1473611414)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000503366 SCV000593122 pathogenic Alstrom syndrome 2017-03-21 criteria provided, single submitter clinical testing
Invitae RCV000503366 SCV001201482 pathogenic Alstrom syndrome 2019-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg3629*) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with ALMS1-related conditions (PMID: 15689433, 24400638). ClinVar contains an entry for this variant (Variation ID: 434136). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001576245 SCV001803391 pathogenic not provided 2020-12-04 criteria provided, single submitter clinical testing Identified in the compound heterozygous state with a pathogenic variant on the opposite allele (in trans) in multiple unrelated individuals with Alstrom Syndrome and in the homozygous state with a pathogenic variant on the opposite allele (in trans) in an individual with Bardet-Biedl syndrome in the published literature (Bond et al., 2005; Minton et al., 2006; Sathya Priya et al., 2015; Brofferio et al., 2017); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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; Reported in ClinVar as pathogenic (ClinVar Variant ID# 434136; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 15689433, 24400638, 28610912, 16720663, 22773737)

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