Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000239710 | SCV000298052 | pathogenic | Birt-Hogg-Dube syndrome | 2016-07-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000657236 | SCV000778963 | pathogenic | not provided | 2017-07-07 | criteria provided, single submitter | clinical testing | This combined deletion and insertion is denoted FLCN c.632_633delAGinsC at the cDNA level and p.Glu211AlafsX12 (E211AfsX12) at the protein level. The normal sequence, with the bases that are deleted and inserted in brackets, is GCAG[delAG][insC]CAGT. The variant causes a frameshift which changes a Glutamic Acid to an Alanine at codon 211, and creates a premature stop codon at position 12 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. FLCN c.632_633delAGinsC has been observed in association with Birt-Hogg-Dub? (Nickerson 2002, Schmidt 2005). We consider this variant to be pathogenic. |
OMIM | RCV000239710 | SCV000023690 | pathogenic | Birt-Hogg-Dube syndrome | 2009-09-01 | no assertion criteria provided | literature only |