ClinVar Miner

Submissions for variant NM_014467.3(SRPX2):c.1255G>A (p.Val419Met)

gnomAD frequency: 0.00001  dbSNP: rs797046012
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192999 SCV000249040 uncertain significance not specified 2014-12-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001222368 SCV001394465 uncertain significance Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 2022-10-13 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SRPX2 protein function. ClinVar contains an entry for this variant (Variation ID: 212309). This variant has not been reported in the literature in individuals affected with SRPX2-related conditions. This variant is present in population databases (rs797046012, gnomAD 0.004%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 419 of the SRPX2 protein (p.Val419Met).

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