ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1786del (p.Glu596fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002651482 SCV003524660 pathogenic Alstrom syndrome 2023-09-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2203097). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Alström syndrome (PMID: 17594715). This sequence change creates a premature translational stop signal (p.Glu597Lysfs*4) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). This variant is not present in population databases (gnomAD no frequency).

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