ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter)

gnomAD frequency: 0.00001  dbSNP: rs1490504758
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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 RCV001070227 SCV001235445 pathogenic Alstrom syndrome 2023-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser697*) 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 (no rsID available, gnomAD 0.01%). This premature translational stop signal has been observed in individuals with Alstrom syndrome (PMID: 24049434, 26047050). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Ser695*. ClinVar contains an entry for this variant (Variation ID: 863290). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001070227 SCV002080442 pathogenic Alstrom syndrome 2020-07-13 no assertion criteria provided clinical testing

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