Submissions for variant NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile)

gnomAD frequency: 0.00145  dbSNP: rs149051060

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000189575	SCV000243218	uncertain significance	not specified	2014-07-03	criteria provided, single submitter	clinical testing	p.Leu344Ile (CTC>ATC): c.1030 C>A in exon 9 in the SRPX2 gene (NM_014467.2). The L344I variant in the SRPX2 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The L344I variant has been identified at low frequency in African Americans (0.49%, 19/3835 alleles) by the NHLBI Exome Sequencing Project and was not observed in the homozygous state in any individual within this population. The L344I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret L344I as a variant of unknown significance. The variant is found in CHILD-EPI,EPILEPSY panel(s).
Eurofins Ntd Llc (ga)	RCV000189575	SCV000338198	likely benign	not specified	2015-12-16	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000625846	SCV000746414	likely pathogenic	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	2017-12-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000625846	SCV000762471	likely benign	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	2022-08-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713523	SCV000844145	benign	not provided	2018-08-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003977501	SCV004787625	likely benign	SRPX2-related disorder	2023-04-11	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).