ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10972C>T (p.Arg3658Ter)

dbSNP: rs780438592
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001255907 SCV002171318 pathogenic Alstrom syndrome 2023-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg3659*) 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 Alstrom syndrome (PMID: 16720663). ClinVar contains an entry for this variant (Variation ID: 977960). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001255907 SCV002798712 pathogenic Alstrom syndrome 2021-09-13 criteria provided, single submitter clinical testing
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001255907 SCV001432511 pathogenic Alstrom syndrome no assertion criteria provided research

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