ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3011C>G (p.Ser1004Ter)

dbSNP: rs1359874667
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001067735 SCV001232807 pathogenic Alstrom syndrome 2019-12-22 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser1005*) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ALMS1-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715).
Genome-Nilou Lab RCV001067735 SCV001810257 pathogenic Alstrom syndrome 2021-07-22 criteria provided, single submitter clinical testing

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