ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.800G>A (p.Trp267Ter) (rs1558639105)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760672 SCV000890564 pathogenic not provided 2018-08-17 criteria provided, single submitter clinical testing The W267X pathogenic variant in the ALMS1 gene has been reported previously, sometimes using alternate nomenclature (W266X), in combination with another ALMS1 variant in an individual reported to have a ciliopathy and in another individual reported to have Alstrom syndrome (Consugar et al., 2015; Astuti et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W267X variant is not observed in large population cohorts (Lek et al., 2016). We interpret W267X as a pathogenic variant.

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