ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.11994G>A (p.Trp3998Ter) (rs1553421725)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578510 SCV000681188 likely pathogenic not provided 2017-12-07 criteria provided, single submitter clinical testing The W3998X likely pathogenic variant in the ALMS1 gene has not been published as pathogenic or benign to our knowledge. W3998X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Many other nonsense variants in the ALMS1 gene have been reported in Human Gene Mutation Database in association with Alstrom syndrome (Stenson et al., 2014). Furthermore, W3998X is not observed in large population cohorts (Lek et al., 2016).Therefore, W3998X in the ALMS1 gene is interpreted as a likely pathogenic variant.
Invitae RCV001219856 SCV001391815 pathogenic Alstrom syndrome 2019-05-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp3998*) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 489198). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.

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