ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1727C>G (p.Ser576Ter)

dbSNP: rs756389027
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986772 SCV001135894 pathogenic Alstrom syndrome 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000986772 SCV002144157 pathogenic Alstrom syndrome 2022-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser577*) 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 (rs756389027, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Alstrom syndrome (PMID: 22773737). ClinVar contains an entry for this variant (Variation ID: 801720). For these reasons, this variant has been classified as Pathogenic.

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