ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1351C>T (p.Pro451Ser) (rs796052816)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188369 SCV000241981 likely pathogenic not provided 2012-12-13 criteria provided, single submitter clinical testing This variant is denoted p.Pro451Ser (CCG>TCG): c.1351 C>T in exon 1 of the PCDH19 gene (NM_001105243.1). The Pro451Ser missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Pro451Ser in approximately 6,300 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is non-conservative as a non-polar Proline residue is replaced by a polar Serine residue and the loss of a Proline may affected the secondary structure of the protocadherin 19 protein. Pro451Ser alters a highly conserved position within an extracellular cadherin repeat domain of the protein where other missense mutations in this domain have been published in association with epilepsy (Dibbens et al., 2008; Specchio et al., 2011). In addition, multiple in-silico algorithms predict it may be damaging to the structure/function of the protein. Therefore, based on the currently available information, Pro451Ser is a strong candidate for a disease-causing mutation, although the possibility that it is a benign variant cannot be excluded. The variant is found in INFANT-EPI panel(s).

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