ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8998C>T (p.Gln3000Ter)

dbSNP: rs200930613
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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 RCV001949365 SCV002245639 pathogenic Alstrom syndrome 2023-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln3001*) 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 (rs200930613, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1457897). For these reasons, this variant has been classified as Pathogenic.

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