Submissions for variant NM_018972.4(GDAP1):c.310+6del

gnomAD frequency: 0.00109  dbSNP: rs780828430

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000487806	SCV000292557	likely benign	not provided	2020-06-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000314404	SCV000474960	uncertain significance	Charcot-Marie-Tooth with Vocal Cord Paresis	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000369024	SCV000474961	uncertain significance	Charcot-Marie-Tooth, Intermediate	2016-06-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000487806	SCV000575561	uncertain significance	not provided	2019-10-01	criteria provided, single submitter	clinical testing
Invitae	RCV001079588	SCV000644064	likely benign	Charcot-Marie-Tooth disease type 4A	2024-01-19	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173553	SCV001336643	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001334034	SCV001526769	uncertain significance	Charcot-Marie-Tooth disease axonal type 2K	2018-11-03	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Laboratory of Functional Genomics, Research Centre for Medical Genetics	RCV001334034	SCV001781229	likely benign	Charcot-Marie-Tooth disease axonal type 2K	2021-08-12	criteria provided, single submitter	clinical testing	Splicing variant c.310+6delG in GDAP1 gene could be classified as likely benign variant according to AСMG criteria (PM2, BP4, BS3, PM3). The variant vas observed in 31 y.o. female patient with Charcot-Marie-Tooth disease with axonal type of lession in compound heterozygous state with pathogenic c.715C>T variant.
Ambry Genetics	RCV002321898	SCV002605915	uncertain significance	Inborn genetic diseases	2021-12-07	criteria provided, single submitter	clinical testing	The c.310+6delG intronic variant is located 6 nucleotides after coding exon 2 of the GDAP1 gene. This variant results from a deletion of one nucleotide at position c.310+6. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the supporting evidence, this variant is unlikely to be causative of axonal Charcot-Marie-Tooth disease, type 2K (CMT2K); however, its contribution to the development of the autosomal recessive spectrum of diseases is uncertain.
PreventionGenetics, part of Exact Sciences	RCV003930008	SCV004742128	likely benign	GDAP1-related condition	2019-07-01	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).