ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs) (rs932538480)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673624 SCV000798849 likely pathogenic Alstrom syndrome 2018-03-27 criteria provided, single submitter clinical testing
Invitae RCV000673624 SCV001392084 pathogenic Alstrom syndrome 2019-06-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val3906Glyfs*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 not been reported in the literature in individuals with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 557476). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.
Nilou-Genome Lab RCV000673624 SCV001810259 likely pathogenic Alstrom syndrome 2021-07-22 criteria provided, single submitter clinical testing

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