ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4934C>A (p.Ser1645Ter)

dbSNP: rs774594040
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075532 SCV001241158 pathogenic Retinal dystrophy 2018-12-04 criteria provided, single submitter clinical testing
Invitae RCV002554760 SCV003524661 pathogenic Alstrom syndrome 2022-03-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 867044). This premature translational stop signal has been observed in individual(s) with Alström syndrome (PMID: 15689433, 32349990). This variant is present in population databases (rs774594040, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ser1646*) 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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