Submissions for variant NM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter)

dbSNP: rs118203972

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV001311296	SCV001501408	pathogenic	not provided	2020-10-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001851524	SCV002230956	pathogenic	Charcot-Marie-Tooth disease type 4	2023-04-14	criteria provided, single submitter	clinical testing	This premature translational stop signal has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 17564972). This sequence change creates a premature translational stop signal (p.Arg224*) in the FGD4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FGD4 are known to be pathogenic (PMID: 17564972). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1011). For these reasons, this variant has been classified as Pathogenic.
OMIM	RCV000001066	SCV000021216	pathogenic	Charcot-Marie-Tooth disease type 4H	2007-07-01	no assertion criteria provided	literature only
Inherited Neuropathy Consortium Ii, University Of Miami	RCV000001066	SCV004174416	uncertain significance	Charcot-Marie-Tooth disease type 4H	2016-01-06	no assertion criteria provided	literature only