ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.1735del (p.Arg579fs) (rs777476179)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415931 SCV000493279 likely pathogenic not provided 2016-08-01 criteria provided, single submitter clinical testing
Counsyl RCV000668033 SCV000792576 likely pathogenic Alstrom syndrome 2017-07-10 criteria provided, single submitter clinical testing
Invitae RCV000668033 SCV000931494 pathogenic Alstrom syndrome 2019-02-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg579Glyfs*17) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs777476179, ExAC 0.001%). This variant has been observed in an individual affected with Alstrom syndrome (PMID: 24462884). ClinVar contains an entry for this variant (Variation ID: 374506). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003950 SCV001161940 likely pathogenic Leukodystrophy; Visual impairment; Hearing impairment; Stage 5 chronic kidney disease no assertion criteria provided research
Clinical Genetics,Academic Medical Center RCV000415931 SCV001924635 pathogenic not provided no assertion criteria provided clinical testing

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