ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) (rs797045228)

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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 RCV000194605 SCV000246358 pathogenic Alstrom syndrome 2014-05-06 criteria provided, single submitter clinical testing
Counsyl RCV000194605 SCV000790750 pathogenic Alstrom syndrome 2017-04-06 criteria provided, single submitter clinical testing
Invitae RCV000194605 SCV000950098 pathogenic Alstrom syndrome 2018-12-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1386Asnfs*15) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs757011587, ExAC 0.001%). This variant has been observed to be homozygous or in combination with another ALMS1 variant in several individuals affected with Alstrom syndrome (PMID: 25706677, 25296579, 23188138, 28432734). 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: 210127). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091464 SCV001247528 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001091464 SCV001447537 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Laboratory of Genetics in Ophthalmology,Institut Imagine RCV000194605 SCV001432510 pathogenic Alstrom syndrome no assertion criteria provided research

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