ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3954_3955del (p.Pro1319fs)

dbSNP: rs2103780806
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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 RCV002040058 SCV002113731 pathogenic Alstrom syndrome 2021-03-13 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro1320Serfs*2) 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 has not been reported in the literature in individuals with ALMS1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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