ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.6167_6168AT[3] (p.Leu2058fs) (rs759603306)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634805 SCV000756149 pathogenic Alstrom syndrome 2018-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu2058Phefs*17) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in an individual affected with Alstrom syndrome  (PMID: 25846608). This variant has also been reported as c.6169_6170dup. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.

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