ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs) (rs1034630858)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000503357 SCV000593119 pathogenic Alstrom syndrome 2015-12-01 criteria provided, single submitter clinical testing
Counsyl RCV000503357 SCV000796345 pathogenic Alstrom syndrome 2017-12-12 criteria provided, single submitter clinical testing
Invitae RCV000503357 SCV001581355 pathogenic Alstrom syndrome 2020-02-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2191Metfs*15) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Alstrom syndrome (PMID: 11941370, 29193673). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 434133). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.
Human Genetics - Radboudumc,Radboudumc RCV001724029 SCV001952410 pathogenic not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001724029 SCV001963113 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724029 SCV001967941 pathogenic not provided no assertion criteria provided clinical testing

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