ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11411del (p.Arg3804fs)

dbSNP: rs1263250868
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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 RCV001907210 SCV002126581 pathogenic Alstrom syndrome 2021-02-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Alstrom syndrome (PMID: 21157496). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg3805Asnfs*28) 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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