ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.9433dup (p.Thr3145fs) (rs878855003)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233354 SCV000290109 pathogenic Alstrom syndrome 2015-12-25 criteria provided, single submitter clinical testing This sequence change inserts one nucleotides in exon 10 of the ALMS1 mRNA (c.9433dup), causing a frameshift at codon 3145. This creates a premature translational stop signal (p.Thr3145Asnfs*7) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in ALMS1 are known to be pathogenic (PMID: 22773737). For these reasons, this variant has been classified as Pathogenic.

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