ClinVar Miner

Submissions for variant NM_014467.3(SRPX2):c.221C>T (p.Pro74Leu)

gnomAD frequency: 0.00005  dbSNP: rs773892997
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731426 SCV000859243 uncertain significance not provided 2018-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868964 SCV002172160 uncertain significance Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 2020-11-10 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. 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. This variant has not been reported in the literature in individuals with SRPX2-related conditions. ClinVar contains an entry for this variant (Variation ID: 595782). This variant is present in population databases (rs773892997, ExAC 0.04%). This sequence change replaces proline with leucine at codon 74 of the SRPX2 protein (p.Pro74Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine.
Ambry Genetics RCV004027007 SCV004956456 uncertain significance not specified 2022-08-30 criteria provided, single submitter clinical testing The c.221C>T (p.P74L) alteration is located in exon 4 (coding exon 3) of the SRPX2 gene. This alteration results from a C to T substitution at nucleotide position 221, causing the proline (P) at amino acid position 74 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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