ClinVar Miner

Submissions for variant NM_014467.3(SRPX2):c.215A>C (p.Tyr72Ser)

gnomAD frequency: 0.00003  dbSNP: rs121918364
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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 RCV000011523 SCV001556444 uncertain significance Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 2020-08-06 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. This variant has been reported to affect SRPX2 protein function (PMID: 16497722, 23831613, 18718938). This variant has been observed in individual(s) with SRPX2-related conditions (PMID: 16497722). ClinVar contains an entry for this variant (Variation ID: 10776). This variant is present in population databases (rs121918364, ExAC 0.002%). This sequence change replaces tyrosine with serine at codon 72 of the SRPX2 protein (p.Tyr72Ser). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and serine.
OMIM RCV000011523 SCV000031755 pathogenic Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 2013-08-01 no assertion criteria provided literature only

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