Submissions for variant NM_138773.4(SLC25A46):c.385-4A>G

gnomAD frequency: 0.00009  dbSNP: rs377289513

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000527571	SCV000656075	likely benign	Neuropathy, hereditary motor and sensory, type 6B	2023-10-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002358611	SCV002621518	uncertain significance	Inborn genetic diseases	2019-09-18	criteria provided, single submitter	clinical testing	The c.385-4A>G intronic variant results from an A to G substitution 4 nucleotides upstream from coding exon 4 in the SLC25A46 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV003424148	SCV004159200	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	SLC25A46: BP4
PreventionGenetics, part of Exact Sciences	RCV003935543	SCV004755981	likely benign	SLC25A46-related disorder	2019-06-07	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).