ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4820dup (p.Thr1608fs) (rs758098717)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045095 SCV001208928 pathogenic Alstrom syndrome 2019-02-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1609Aspfs*2) 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 an individual affected with Alstrom syndrome (PMID: 25846608). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001532997 SCV001745873 pathogenic Intellectual disability 2021-07-08 criteria provided, single submitter clinical testing in trans with another pathogenic variant. Alstrom syndrome

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