ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3011_3012CA[1] (p.Ser1004_His1005insTer) (rs1572933385)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008731 SCV001168512 pathogenic not provided 2019-04-09 criteria provided, single submitter clinical testing The c.3016_3017delCA variant in the ALMS1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3016_3017delCA variant causes a frameshift, changing codon Histidine 1006 to a premature Stop codon, denoted p.His1006Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3016_3017delCA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.3016_3017delCA as a pathogenic variant.

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