ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001384454 SCV001583953 pathogenic Alstrom syndrome 2020-10-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2886*) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs776563011, ExAC 0.01%). This variant has been observed in individual(s) with Alstrom syndrome (PMID: 17594715). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV001384454 SCV001950026 pathogenic Alstrom syndrome 2021-07-26 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with cDNA change: NM_015120.4:c.11313_11316del

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