Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003555999 | SCV004299570 | pathogenic | not provided | 2023-06-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala316Cysfs*4) in the FGD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FGD1 are known to be pathogenic (PMID: 21739585, 23211637, 25046119, 26029706). This variant is not present in population databases (gnomAD no frequency). This variant is also known as c.945insC. This premature translational stop signal has been observed in individual(s) with Aarskog-Scott syndrome (PMID: 17152066). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 10833). |
OMIM | RCV000011580 | SCV000031812 | pathogenic | Aarskog syndrome | 2007-01-01 | no assertion criteria provided | literature only |