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NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 18, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000521156.1

Allele description [Variation Report for NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu)]

NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu)

Gene:
PCDH19:protocadherin 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu)
HGVS:
  • NC_000023.11:g.100406898G>A
  • NG_021319.1:g.8376C>T
  • NM_001105243.2:c.1700C>T
  • NM_001184880.2:c.1700C>TMANE SELECT
  • NM_020766.3:c.1700C>T
  • NP_001098713.1:p.Pro567Leu
  • NP_001171809.1:p.Pro567Leu
  • NP_065817.2:p.Pro567Leu
  • LRG_843t1:c.1700C>T
  • LRG_843:g.8376C>T
  • LRG_843p1:p.Pro567Leu
  • NC_000023.10:g.99661896G>A
  • NM_001184880.1:c.1700C>T
Protein change:
P567L
Links:
dbSNP: rs201989363
NCBI 1000 Genomes Browser:
rs201989363
Molecular consequence:
  • NM_001105243.2:c.1700C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001184880.2:c.1700C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020766.3:c.1700C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000617392GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Jul 18, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000617392.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The P567L variant in the PCDH19 gene has been reported previously in several females with epilepsy and intellectual disability, including at least one family where the variant was inherited from an asymptomatic mother and at least one family where the variant was apparently de novo (Depienne et al., 2011; Marini et al., 2012; Cappelletti et al., 2015). The P567L variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P567L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, but in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret P567L as a likely pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024