ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4544del (p.Ala1515fs)

gnomAD frequency: 0.00001  dbSNP: rs745461983
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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 RCV001993322 SCV002234434 pathogenic Alstrom syndrome 2021-07-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. This variant is present in population databases (rs745461983, ExAC 0.01%). This sequence change creates a premature translational stop signal (p.Ala1516Aspfs*4) 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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