ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.6800T>A (p.Leu2267Ter) (rs761071372)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670616 SCV000795491 likely pathogenic Alstrom syndrome 2017-11-08 criteria provided, single submitter clinical testing
Invitae RCV000670616 SCV001227698 pathogenic Alstrom syndrome 2019-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu2267*) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs761071372, ExAC 0.002%). This variant has been observed in individual(s) with Alstrom syndrome (PMID: 17594715). ClinVar contains an entry for this variant (Variation ID: 554903). 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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