ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4035_4047del (p.Gln1345fs)

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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 RCV003502250 SCV004306733 pathogenic Alstrom syndrome 2023-03-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1346Hisfs*10) 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). 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 (rs753835568, gnomAD 0.002%).

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