ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3059_3062del (p.Ser1020fs)

dbSNP: rs2103777482
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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 RCV001941566 SCV002228189 pathogenic Alstrom syndrome 2023-03-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1453827). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. This sequence change creates a premature translational stop signal (p.Ser1021Metfs*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).

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