ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4293_4296del (p.His1431fs)

dbSNP: rs398122993
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000210469 SCV000266546 pathogenic Alstrom syndrome criteria provided, single submitter research
Invitae RCV000210469 SCV002242505 pathogenic Alstrom syndrome 2021-05-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of ALMS1-related conditions (PMID: 24595103). ClinVar contains an entry for this variant (Variation ID: 92192). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His1432Glnfs*40) 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).
Johns Hopkins Genetic Resources Core Facility; Johns Hopkins University RCV000077808 SCV000109648 not provided not provided no assertion provided not provided

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