ClinVar Miner

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

dbSNP: rs758098717
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045095 SCV001208928 pathogenic Alstrom syndrome 2021-07-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in an individual affected with Alstrom syndrome (PMID: 25846608). ClinVar contains an entry for this variant (Variation ID: 842644). This variant is not present in population databases (ExAC no frequency). 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. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715).
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
Fulgent Genetics, Fulgent Genetics RCV001045095 SCV002811595 pathogenic Alstrom syndrome 2021-11-11 criteria provided, single submitter clinical testing

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