ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6683_6684del (p.Asp2228fs)

dbSNP: rs2103791069
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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 RCV001951180 SCV002245535 pathogenic Alstrom syndrome 2023-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp2229Glyfs*7) 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 not present in population databases (gnomAD no frequency). 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: 1456493). For these reasons, this variant has been classified as Pathogenic.

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