ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11449_11450del (p.Arg3817fs)

dbSNP: rs776599992
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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 RCV000807824 SCV000947899 pathogenic Alstrom syndrome 2024-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg3818Glufs*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). This variant is present in population databases (rs776599992, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 652293). For these reasons, this variant has been classified as Pathogenic.

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