ClinVar Miner

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

dbSNP: rs1412574975
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673069 SCV000798236 likely pathogenic Alstrom syndrome 2018-03-07 criteria provided, single submitter clinical testing
Invitae RCV000673069 SCV004313337 pathogenic Alstrom syndrome 2023-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser3696Alafs*27) 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 variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 556993). For these reasons, this variant has been classified as Pathogenic.
Gharavi Laboratory, Columbia University RCV000723137 SCV000854268 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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