ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12323del (p.Lys4108fs)

dbSNP: rs1675739925
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001865001 SCV002125199 pathogenic Alstrom syndrome 2022-05-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys4109Serfs*8) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. This variant is not present in population databases (gnomAD no frequency).
AiLife Diagnostics, AiLife Diagnostics RCV002224097 SCV002502668 likely pathogenic not provided 2021-08-11 criteria provided, single submitter clinical testing

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