ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.3293TCAACAATG[1] (p.1098VNN[1])

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002675897 SCV002985674 uncertain significance Developmental and epileptic encephalopathy, 9 2021-12-15 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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. This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. This variant, c.3302_3310del, results in the deletion of 3 amino acid(s) of the PCDH19 protein (p.Val1101_Asn1103del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs750470204, gnomAD 0.02%).

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