Submissions for variant NM_001370298.3(FGD4):c.666A>T (p.Ala222=)

gnomAD frequency: 0.00161  dbSNP: rs139357821

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000199755	SCV000253655	likely benign	Charcot-Marie-Tooth disease type 4	2025-02-03	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000287175	SCV000336704	likely benign	not specified	2015-12-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000999867	SCV000378168	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV001311295	SCV000518235	likely benign	not provided	2020-12-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000999867	SCV000885451	likely benign	Charcot-Marie-Tooth disease type 4H	2023-11-09	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173488	SCV001336577	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001311295	SCV001501407	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	FGD4: BP4, BP7
Ambry Genetics	RCV002426945	SCV002743055	likely benign	Inborn genetic diseases	2019-07-11	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.
Clinical Genetics, Academic Medical Center	RCV000287175	SCV001918110	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001311295	SCV001929346	likely benign	not provided		no assertion criteria provided	clinical testing