Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002513705 | SCV003440406 | likely pathogenic | not provided | 2022-04-16 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 527 of the FAM111A protein (p.Pro527Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with FAM111A-related conditions (PMID: 23684011; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 56815). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
OMIM | RCV000050214 | SCV000082790 | pathogenic | Osteocraniostenosis | 2013-06-06 | no assertion criteria provided | literature only | |
Clin |
RCV000050214 | SCV000244023 | likely pathogenic | Osteocraniostenosis | 2013-06-27 | no assertion criteria provided | literature only |