Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082636 | SCV000114678 | pathogenic | not provided | 2013-08-07 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000239717 | SCV000298044 | pathogenic | Birt-Hogg-Dube syndrome | 2016-07-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000492649 | SCV000580755 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-01-20 | criteria provided, single submitter | clinical testing | The p.Q116* pathogenic mutation (also known as c.346C>T), located in coding exon 2 of the FLCN gene, results from a C to T substitution at nucleotide position 346. This changes the amino acid from a glutamine to a stop codon within coding exon 2. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Invitae | RCV000239717 | SCV000756951 | pathogenic | Birt-Hogg-Dube syndrome | 2023-11-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln116*) in the FLCN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Birt-Hogg-Dubé syndrome (PMID: 18234728, 30580288). ClinVar contains an entry for this variant (Variation ID: 96484). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV000239717 | SCV004186031 | pathogenic | Birt-Hogg-Dube syndrome | 2023-11-29 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |