Submissions for variant NM_001793.6(CDH3):c.830del (p.Gly277fs)

dbSNP: rs724159985

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001851938	SCV002161803	pathogenic	not provided	2023-07-17	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 17641). This sequence change creates a premature translational stop signal (p.Gly277Alafs*20) in the CDH3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDH3 are known to be pathogenic (PMID: 15805154, 27386845, 29620724). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with CDH3-related conditions (PMID: 14708629, 28041643, 32581362). This variant is also known as 829delG.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV002243655	SCV002512377	pathogenic	Congenital hypotrichosis with juvenile macular dystrophy	2021-08-19	criteria provided, single submitter	clinical testing	ACMG classification criteria: PVS1 very strong, PS4 moderate, PM2 moderate, PM3 moderate
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	RCV001851938	SCV002818225	pathogenic	not provided	2022-12-17	criteria provided, single submitter	clinical testing
OMIM	RCV000019208	SCV000039496	pathogenic	EEM syndrome	2005-04-01	no assertion criteria provided	literature only
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000505148	SCV000598737	pathogenic	Macular dystrophy	2015-01-01	no assertion criteria provided	research