ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.790dup (p.Thr264fs)

dbSNP: rs1307785790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001970057 SCV002236492 pathogenic Alstrom syndrome 2023-11-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr265Asnfs*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 is not present in population databases (gnomAD no frequency). 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: 1455567). For these reasons, this variant has been classified as Pathogenic.
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV001970057 SCV005382638 pathogenic Alstrom syndrome 2021-08-05 criteria provided, single submitter clinical testing This frameshift variant (c.793dupA; p.Thr265Asnfs*2) predicts a premature stop and has not been reported in population databases (gnomAD). It has been described in the literature (PMID 17594715). It was found in an unaffected parent of an affected individual. The proband carries this change as well an ALMS1 nonsense variation (c.5722C>T, p.Gln1908*) in trans.

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