Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
MAGI'S LAB - |
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. |