ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1853_1857delinsCGAAGTCAGAA (p.Asp618_Gln619delinsAlaLysSerGlu) (rs1569314297)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691800 SCV000819592 uncertain significance Early infantile epileptic encephalopathy 9 2018-12-30 criteria provided, single submitter clinical testing This variant, c.1853_1857delinsCGAAGTCAGAA, is a complex sequence change that results in the insertion of 4 amino acids of the PCDH19 protein (p.Asp618_Gln619delinsAlaLysSerGlu). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PCDH19-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the inserted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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