ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7405G>T (p.Glu2469Ter)

dbSNP: rs373586405
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001386398 SCV001586592 pathogenic Alstrom syndrome 2020-09-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu2470*) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ALMS1-related conditions. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715).

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