ClinVar Miner

Submissions for variant NM_014467.3(SRPX2):c.323G>A (p.Ser108Asn)

gnomAD frequency: 0.00023  dbSNP: rs200483534
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703502 SCV000514781 likely benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000864515 SCV001005325 benign Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 2020-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004668967 SCV005172623 uncertain significance not specified 2024-05-24 criteria provided, single submitter clinical testing The c.323G>A (p.S108N) alteration is located in exon 4 (coding exon 3) of the SRPX2 gene. This alteration results from a G to A substitution at nucleotide position 323, causing the serine (S) at amino acid position 108 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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