ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.10825C>T (p.Arg3609Ter) (rs1192396248)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578563 SCV000680498 pathogenic not provided 2017-10-20 criteria provided, single submitter clinical testing The R3609X pathogenic variant in the ALMS1 gene has been previously reported in at least one Turkish male with Alstrom syndrome who was found to harbor a second protein-truncating variant in the ALMS1 gene (Marshall et al., 2007; Ozantürk et al., 2015). This variant has also been identified in trans with another ALMS1 pathogenic variant in a proband and an affected sibling at GeneDx whose reported phenotypes were consistent with Alstrom syndrome. The R3609X variant 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, R3609X is not observed in large population cohorts (Lek et al., 2016).In summary, R3609X in the ALMS1 gene is interpreted as a pathogenic variant.
Counsyl RCV000984142 SCV001132117 likely pathogenic Alstrom syndrome 2017-04-29 no assertion criteria provided clinical testing

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