ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs)

dbSNP: rs755616266
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667663 SCV000792149 pathogenic Alstrom syndrome 2017-06-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667663 SCV002240759 pathogenic Alstrom syndrome 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg3611Alafs*6) 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 present in population databases (rs755616266, gnomAD 0.04%). This premature translational stop signal has been observed in individual(s) with clinical features of Alström syndrome (PMID: 17594715, 26010121, 29720996). 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: 552413). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000667663 SCV002802386 pathogenic Alstrom syndrome 2021-11-10 criteria provided, single submitter clinical testing
Department of Pediatrics, National Cheng-Kung University Hospital RCV000667663 SCV004046850 pathogenic Alstrom syndrome no assertion criteria provided clinical testing

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