Submissions for variant NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr)

dbSNP: rs144693221

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000168459	SCV000219158	likely benign	Charcot-Marie-Tooth disease type 4	2024-01-30	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000357650	SCV000340733	likely benign	not specified	2016-04-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094181	SCV000378192	likely benign	Charcot-Marie-Tooth disease type 4H	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000658641	SCV000513032	benign	not provided	2019-05-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001094181	SCV000603700	likely benign	Charcot-Marie-Tooth disease type 4H	2023-11-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000658641	SCV000780423	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	FGD4: BP4
Athena Diagnostics	RCV000658641	SCV000842019	benign	not provided	2019-06-24	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001174114	SCV001337235	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002399597	SCV002713537	likely benign	Inborn genetic diseases	2021-09-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV003917576	SCV004736317	likely benign	FGD4-related disorder	2019-06-18	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).