ClinVar Miner

Submissions for variant NM_014467.3(SRPX2):c.1289G>A (p.Arg430His)

gnomAD frequency: 0.00002  dbSNP: rs183378773
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551378 SCV000639905 uncertain significance Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 2017-06-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 430 of the SRPX2 protein (p.Arg430His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs183378773, ExAC 0.03%). This variant has not been reported in the literature in individuals with an 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV004023996 SCV003560225 uncertain significance not specified 2021-07-15 criteria provided, single submitter clinical testing The c.1289G>A (p.R430H) alteration is located in exon 11 (coding exon 10) of the SRPX2 gene. This alteration results from a G to A substitution at nucleotide position 1289, causing the arginine (R) at amino acid position 430 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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