ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12462+1del

dbSNP: rs750907119
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669050 SCV000793749 likely pathogenic Alstrom syndrome 2017-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669050 SCV002166084 uncertain significance Alstrom syndrome 2022-02-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg4156Glufs*2) in the ALMS1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 14 amino acid(s) of the ALMS1 protein. This variant is present in population databases (rs750907119, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. This variant is also known as c.12465+1del. ClinVar contains an entry for this variant (Variation ID: 553572). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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