ClinVar Miner

Submissions for variant NM_014467.3(SRPX2):c.742T>C (p.Tyr248His)

gnomAD frequency: 0.00001  dbSNP: rs1208754092
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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 RCV000530124 SCV000639912 uncertain significance Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 2019-06-20 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on SRPX2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces tyrosine with histidine at codon 248 of the SRPX2 protein (p.Tyr248His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a SRPX2-related disease. 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.

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