ClinVar Miner

Submissions for variant NM_014467.3(SRPX2):c.981C>G (p.Asn327Lys) (rs370033099)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724808 SCV000233123 uncertain significance not provided 2017-10-24 criteria provided, single submitter clinical testing
GeneDx RCV000724808 SCV000243217 uncertain significance not provided 2014-03-12 criteria provided, single submitter clinical testing p.Asn327Lys (AAC>AAG): c.981 C>G in exon 9 of the SRPX2 gene (NM_014467.2) A variant of unknown significance has been identified in the SRPX2 gene. The N327K variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. This variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The N327K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Invitae RCV000545163 SCV000639913 uncertain significance Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked 2019-09-24 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 327 of the SRPX2 protein (p.Asn327Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is present in population databases (rs370033099, ExAC 0.02%). This variant has not been reported in the literature in individuals with SRPX2-related disease. ClinVar contains an entry for this variant (Variation ID: 199131). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Fulgent Genetics,Fulgent Genetics RCV000545163 SCV000896041 uncertain significance Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked 2018-10-31 criteria provided, single submitter 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.