Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000359825 | SCV000332406 | uncertain significance | not provided | 2015-06-29 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001333059 | SCV001525544 | uncertain significance | Microcephalic primordial dwarfism due to RTTN deficiency | 2019-04-15 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV000359825 | SCV002278087 | uncertain significance | not provided | 2021-08-07 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with asparagine at codon 1622 of the RTTN protein (p.Asp1622Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RTTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 281568). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |