ClinVar Miner

Submissions for variant NM_014467.3(SRPX2):c.586C>A (p.Pro196Thr)

dbSNP: rs1398023125
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001216155 SCV001387934 uncertain significance Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 2019-05-31 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. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SRPX2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with threonine at codon 196 of the SRPX2 protein (p.Pro196Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine.

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