ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11420_11424del (p.Lys3807fs)

dbSNP: rs1553418609
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558405 SCV000631758 pathogenic Alstrom syndrome 2017-03-25 criteria provided, single submitter clinical testing This sequence change deletes 5 nucleotides from exon 16 of the ALMS1 mRNA (c.11423_11427delAATTA), causing a frameshift at codon 3808. This creates a premature translational stop signal (p.Lys3808Ilefs*2) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported 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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