ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7301_7302del (p.Glu2434fs) (rs1246023978)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534085 SCV000631799 pathogenic Alstrom syndrome 2019-10-25 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 8 of the ALMS1 mRNA (c.7304_7305delAG), causing a frameshift at codon 2435. This creates a premature translational stop signal (p.Glu2435Valfs*7) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). This particular variant has been reported in the literature in an individual affected with Alström syndrome (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.

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