ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) (rs772624348)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000192879 SCV000246353 pathogenic Alstrom syndrome 2014-01-14 criteria provided, single submitter clinical testing
Invitae RCV000192879 SCV001231130 pathogenic Alstrom syndrome 2020-02-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln3495*) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs772624348, ExAC 0.008%). This variant has been observed in several individuals affected with Alström syndrome and to segregate with disease in a family (PMID: 11941370, 24462884, 28402684). This variant is also known as p.Gln3494* in the literature. ClinVar contains an entry for this variant (Variation ID: 210122). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV000192879 SCV001453044 pathogenic Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001723762 SCV001952649 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723762 SCV001965119 pathogenic not provided no assertion criteria provided clinical testing

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