Submissions for variant NM_004637.6(RAB7A):c.87G>A (p.Val29=)

gnomAD frequency: 0.00039  dbSNP: rs145441548

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001087702	SCV000440715	benign	Charcot-Marie-Tooth disease type 2B	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000712887	SCV000526623	likely benign	not provided	2021-06-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087702	SCV000638309	benign	Charcot-Marie-Tooth disease type 2B	2024-12-08	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712887	SCV000843438	benign	not provided	2018-03-26	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173967	SCV001337087	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002446600	SCV002682660	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.
CeGaT Center for Human Genetics Tuebingen	RCV000712887	SCV004698435	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	RAB7A: BP4, BP7, BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001087702	SCV005877942	benign	Charcot-Marie-Tooth disease type 2B	2024-03-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003932385	SCV004763346	likely benign	RAB7A-related disorder	2020-03-23	no assertion criteria provided	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).