ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter)

gnomAD frequency: 0.00002  dbSNP: rs755760721
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671016 SCV000795953 likely pathogenic Alstrom syndrome 2017-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000671016 SCV001585252 pathogenic Alstrom syndrome 2022-02-03 criteria provided, single submitter clinical testing 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.Leu55*) 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 (rs755760721, gnomAD 0.009%). ClinVar contains an entry for this variant (Variation ID: 555236). For these reasons, this variant has been classified as Pathogenic.

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