ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) (rs1554593901)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555090 SCV000636810 pathogenic Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2020-01-07 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 591 of the WASHC5 protein (p.Ser591Pro). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with hereditary spastic paraplegia (PMID: 24824269, Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 463137). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000825002 SCV000966194 likely pathogenic Hereditary spastic paraplegia 8 2018-05-09 criteria provided, single submitter clinical testing
Paris Brain Institute,Inserm - ICM RCV000825002 SCV001451199 pathogenic Hereditary spastic paraplegia 8 criteria provided, single submitter clinical testing
Genomics England Pilot Project,Genomics England RCV001542471 SCV001760207 likely pathogenic Ritscher-Schinzel syndrome 1 no assertion criteria provided clinical testing

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.