ClinVar Miner

Submissions for variant NM_014467.3(SRPX2):c.370G>A (p.Ala124Thr)

gnomAD frequency: 0.00001  dbSNP: rs746716311
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219579 SCV001391525 uncertain significance Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 2019-04-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 124 of the SRPX2 protein (p.Ala124Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with SRPX2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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.

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