Submissions for variant NM_022041.4(GAN):c.1684C>G (p.Pro562Ala)

gnomAD frequency: 0.00388  dbSNP: rs79901179

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000416130	SCV000493483	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	GAN: BS1, BS2
GeneDx	RCV000416130	SCV000513109	likely benign	not provided	2020-08-31	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20981092, 21356581, 27884173, 14718689)
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000416130	SCV000610799	likely benign	not provided	2017-09-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000555529	SCV000640431	benign	Giant axonal neuropathy 1	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000555529	SCV001276372	likely benign	Giant axonal neuropathy 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Inherited Neuropathy Consortium	RCV000555529	SCV000929152	uncertain significance	Giant axonal neuropathy 1		no assertion criteria provided	literature only
Clinical Genetics, Academic Medical Center	RCV000416130	SCV001921307	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000416130	SCV001930054	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000416130	SCV001974434	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000416130	SCV002035426	likely benign	not provided		no assertion criteria provided	clinical testing
Inherited Neuropathy Consortium Ii, University Of Miami	RCV000555529	SCV004174517	uncertain significance	Giant axonal neuropathy 1	2016-01-06	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003912594	SCV004736611	likely benign	GAN-related disorder	2019-04-17	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).