ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1019A>C (p.Asn340Thr) (rs796052839)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494063 SCV000582703 likely pathogenic not provided 2018-06-25 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the PCDH19 gene. The N340T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. A different substitution at the same position (N340S) has been reported previously multiple times in association with PCDH19-related disorders (Depienne et al., 2009; Depienne et al., 2012). The N340T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, the N340T variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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