ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10989G>A (p.Trp3663Ter)

dbSNP: rs193919339
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000004180 SCV001404206 pathogenic Alstrom syndrome 2019-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp3664*) 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 been observed in individuals with Alstrom syndrome (PMID: 11941370). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 3974). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004180 SCV000024346 pathogenic Alstrom syndrome 2002-05-01 no assertion criteria provided literature only

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