ClinVar Miner

Submissions for variant NM_173630.4(RTTN):c.4864G>A (p.Asp1622Asn)

gnomAD frequency: 0.00001  dbSNP: rs886042189
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.