ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter) (rs1192396248)

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Total submissions: 4
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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.
Invitae RCV000984142 SCV001584102 pathogenic Alstrom syndrome 2020-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg3609*) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Alström syndrome (PMID: 17594715, 30029497). ClinVar contains an entry for this variant (Variation ID: 488677). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000578563 SCV001962269 pathogenic not provided 2021-09-01 criteria provided, single submitter clinical testing
Counsyl RCV000984142 SCV001132117 likely pathogenic Alstrom syndrome 2017-04-29 no assertion criteria provided clinical testing

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