Submissions for variant NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=)

gnomAD frequency: 0.00411  dbSNP: rs139904931

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000327530	SCV000332663	benign	not specified	2015-07-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000259223	SCV000358754	likely benign	Neuronopathy, distal hereditary motor, autosomal recessive 4	2018-01-13	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.
Invitae	RCV001084341	SCV000646002	benign	Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000757669	SCV000885980	benign	not provided	2023-11-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000757669	SCV001846684	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002418106	SCV002677468	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: 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.
CeGaT Center for Human Genetics Tuebingen	RCV000757669	SCV004128077	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	PLEKHG5: BP4, BP7, BS2
Clinical Genetics, Academic Medical Center	RCV000327530	SCV001923076	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000757669	SCV001964972	likely benign	not provided		no assertion criteria provided	clinical testing