ClinVar Miner

Submissions for variant NM_030948.6(PHACTR1):c.190C>G (p.Arg64Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994837 SCV004813283 likely pathogenic Developmental and epileptic encephalopathy, 70 2024-02-09 criteria provided, single submitter clinical testing Variant summary: PHACTR1 c.190C>G (p.Arg64Gly) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 241616 control chromosomes (gnomAD). To our knowledge, no occurrence of c.190C>G in individuals affected with Developmental And Epileptic Encephalopathy, 70 and no experimental evidence demonstrating its impact on protein function have been reported. Variant was seen internally de novo in a patient with clinical features of Developmental And Epileptic Encephalopathy, 70. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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