Submissions for variant NM_000264.5(PTCH1):c.187G>T (p.Glu63Ter)

dbSNP: rs781768965

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000493575	SCV000582120	pathogenic	not provided	2017-05-11	criteria provided, single submitter	clinical testing	The E63X nonsense variant in the PTCH1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E63X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The presence of E63X consistent with the diagnosis of Gorlin syndrome in this individual.
Ambry Genetics	RCV000623932	SCV000741964	pathogenic	Inborn genetic diseases	2017-03-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002413356	SCV002722402	pathogenic	Hereditary cancer-predisposing syndrome	2017-05-25	criteria provided, single submitter	clinical testing	The p.E63* pathogenic mutation (also known as c.187G>T), located in coding exon 1 of the PTCH1 gene, results from a G to T substitution at nucleotide position 187. This changes the amino acid from a glutamic acid to a stop codon within coding exon 1. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.