ClinVar Miner

Submissions for variant NM_014467.3(SRPX2):c.725C>G (p.Thr242Ser)

dbSNP: rs2083202209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048887 SCV001212915 uncertain significance Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 2022-11-22 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: 845761). This variant has not been reported in the literature in individuals affected with SRPX2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 242 of the SRPX2 protein (p.Thr242Ser).
Ambry Genetics RCV002552652 SCV003714852 uncertain significance Inborn genetic diseases 2022-06-10 criteria provided, single submitter clinical testing The c.725C>G (p.T242S) alteration is located in exon 7 (coding exon 6) of the SRPX2 gene. This alteration results from a C to G substitution at nucleotide position 725, causing the threonine (T) at amino acid position 242 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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