ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4645dup (p.Arg1549fs) (rs1553403917)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP RCV000625525 SCV000598655 pathogenic Alstrom syndrome 2017-09-06 no assertion criteria provided clinical testing This homozygous frameshift variation NM_015120.1:c.4648dup;p.(Arg1550Lysfs*10), identified in a patient with Alstrom Syndrome (OMIM# 203800), lies in exon 8 of the ALMS1 gene. A vast majority of reported ALMS1 mutations associated to the syndrome are localized in exon 8 (the largest among the 23 exons of the gene) and are almost all stop codon or frameshift variations resulting in the early termination of the protein.

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