ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10146dup (p.Ser3383fs) (rs1553416872)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523922 SCV000619078 likely pathogenic not provided 2017-07-13 criteria provided, single submitter clinical testing Although the c.10149dupC likely pathogenic variant in the ALMS1 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Serine 3384, changing it to a Glutamine, and creating a premature stop codon at position 7 of the new reading frame, denoted p.Ser3384GlnfsX7. 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, c.10149dupC has not been observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
CeGaT Praxis fuer Humangenetik Tuebingen RCV000523922 SCV001152355 likely pathogenic not provided 2017-04-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV001199640 SCV001162404 pathogenic Alstrom syndrome 2020-01-09 criteria provided, single submitter research

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