ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.901_906delinsGCCAGTGACAGT (p.Thr301_Gly302delinsAlaSerAspSer)

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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 RCV004577285 SCV005061232 uncertain significance Developmental and epileptic encephalopathy, 9 criteria provided, single submitter clinical testing The observed inframe insertion variant c.906_907insAGT (p.Gly302_Ala303insSer) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gly302_Ala303insSer variant is absent in gnomAD Exomes database. This variant has not been submitted to the ClinVar database. The insertion of amino acid Ser between amino acids Gly at position 302 and Ala at position 303 changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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