ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11083dup (p.Ser3695fs)

dbSNP: rs1412574975
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073418 SCV001238959 likely pathogenic Retinal dystrophy 2019-01-31 criteria provided, single submitter clinical testing
Invitae RCV001862501 SCV002157504 pathogenic Alstrom syndrome 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser3696Lysfs*13) 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). This premature translational stop signal has been observed in individual(s) with Alström syndrome (PMID: 32944671). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 865872). For these reasons, this variant has been classified as Pathogenic.

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