ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.827_829del (p.Ser276del) (rs1569315403)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703107 SCV000831989 uncertain significance Early infantile epileptic encephalopathy 9 2018-05-11 criteria provided, single submitter clinical testing This variant, c.827_829delCCT, results in the deletion of 1 amino acid(s) of the PCDH19 protein (p.Ser276del), but otherwise preserves the integrity of the reading frame. 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 deleted amino acid is currently unknown. The p.Ser276 amino acid residue in PCDH19 has been determined to be clinically significant (PMID: 19752159). This suggests that variants that disrupt this residue are likely to be causative of disease. 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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