ClinVar Miner

Submissions for variant NM_014467.3(SRPX2):c.1135A>G (p.Ile379Val)

dbSNP: rs1185487539
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001764848 SCV001989340 uncertain significance not provided 2019-05-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV004867737 SCV005503663 uncertain significance not specified 2024-10-29 criteria provided, single submitter clinical testing The c.1135A>G (p.I379V) alteration is located in exon 10 (coding exon 9) of the SRPX2 gene. This alteration results from a A to G substitution at nucleotide position 1135, causing the isoleucine (I) at amino acid position 379 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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