ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1308del (p.Lys437fs)

dbSNP: rs796052831
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188392 SCV000242004 pathogenic not provided 2012-04-23 criteria provided, single submitter clinical testing This variant is denoted c.1308delC: p.Lys437SerfsX132 (K437SfsX132) in exon 1 of the PCDH19 gene (NM_001105243.1). The c.1308delC mutation in the PCDH19 gene causes a frameshift starting with codon Lysine 437, changes this amino acid to a Serine residue and creates a premature Stop codon at position 137 of the new reading frame, denoted p.Lys437SerfsX132. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, its presence is consistent with a diagnosis of epilepsy and mental retardation limited to females (EFMR). The variant is found in INFANT-EPI panel(s).

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