ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6826C>T (p.Arg2276Ter)

gnomAD frequency: 0.00001  dbSNP: rs1238145717
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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 RCV001905142 SCV002131888 pathogenic Alstrom syndrome 2023-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2277*) 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 (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with clinical features of Alstrom syndrome (PMID: 28432734). ClinVar contains an entry for this variant (Variation ID: 1363896). For these reasons, this variant has been classified as Pathogenic.

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