ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11723del (p.Thr3908fs)

dbSNP: rs1573053412
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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 RCV000799882 SCV000939565 pathogenic Alstrom syndrome 2023-07-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr3909Ilefs*18) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Alström syndrome (PMID: 18195218). ClinVar contains an entry for this variant (Variation ID: 645734). For these reasons, this variant has been classified as Pathogenic.

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