ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1864G>A (p.Gly622Ser)

dbSNP: rs1569314284
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317553 SCV000851039 uncertain significance Inborn genetic diseases 2016-10-12 criteria provided, single submitter clinical testing The p.G622S variant (also known as c.1864G>A), located in coding exon 1 of the PCDH19 gene, results from a G to A substitution at nucleotide position 1864. The glycine at codon 622 is replaced by serine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6207 samples with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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