ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs) (rs780252175)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001255905 SCV001587243 pathogenic Alstrom syndrome 2020-10-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp3771Glufs*20) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs780252175, ExAC 0.002%). This variant has been observed in individual(s) with Alström syndrome (PMID: 17594715). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV001255905 SCV001950025 pathogenic Alstrom syndrome 2021-07-26 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_015120.4:c.8656C>T.
Laboratory of Genetics in Ophthalmology,Institut Imagine RCV001255905 SCV001432508 pathogenic Alstrom syndrome no assertion criteria provided research

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