ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.1215dup (p.Lys406Ter) (rs1553400785)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479159 SCV000574166 likely pathogenic not provided 2017-03-14 criteria provided, single submitter clinical testing Although the c.1215dupT likely pathogenic variant in the ALMS1 gene has not been reported to our knowledge, this variant results in a nonsense variant, K406X. This likely pathogenic variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other loss of function variants in the ALMS1 gene have been reported in Human Gene Mutation Database in association with Alstrom syndrome (Stenson et al., 2014), indicating that this is a mechanism of disease for this gene. Furthermore, the c.1215dupT variant has not been observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).

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