ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.5906C>G (p.Ser1969Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820227 SCV000960932 pathogenic Alstrom syndrome 2018-09-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1969*) 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 a family where at least one individual was affected with Alstrom syndrome (PMID: 24257694). It is also known as 5900C>G in the literature. 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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