Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728731 | SCV000856340 | pathogenic | not provided | 2017-08-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001387919 | SCV001588674 | pathogenic | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2022-07-14 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 405446). For these reasons, this variant has been classified as Pathogenic. This variant is also known as c.6724C>T p.Arg2242X. This premature translational stop signal has been observed in individual(s) with periventricular heterotopia (PMID: 16684786). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg2234*) in the FLNA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLNA are known to be pathogenic (PMID: 16684786, 20730588, 26471271). |