ClinVar Miner

Submissions for variant NM_030948.6(PHACTR1):c.580C>G (p.Leu194Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004771685 SCV005382361 uncertain significance Developmental and epileptic encephalopathy, 70 2023-05-20 criteria provided, single submitter clinical testing The missense variant c.580C>G (p.Leu194Val) in the PHACTR1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.0004%) in the gnomAD Exomes. The amino acid Leucine at position 194 is changed to a Valine changing protein sequence and it might alter its composition and physico-chemical properties. Computational evidence (Polyphen, SIFT and MutationTaster) predicts conflicting evidence on protein structure and function for this variant. The amino acid change p.Leu194Val in PHACTR1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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