Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000387372 | SCV000338721 | uncertain significance | not provided | 2016-01-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000650604 | SCV000772451 | uncertain significance | Joubert syndrome 20; Meckel syndrome, type 11 | 2023-04-12 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 285611). This variant has not been reported in the literature in individuals affected with TMEM231-related conditions. This variant is present in population databases (rs746025189, gnomAD 0.007%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 296 of the TMEM231 protein (p.Phe296Leu). |