Submissions for variant NM_138773.4(SLC25A46):c.938_940dup (p.Tyr313dup)

dbSNP: rs374899270

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000652881	SCV000774753	likely benign	Neuropathy, hereditary motor and sensory, type 6B	2024-12-31	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001356125	SCV001714737	uncertain significance	not provided	2023-06-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002369756	SCV002684948	likely benign	Inborn genetic diseases	2019-12-28	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	RCV001356125	SCV003916963	uncertain significance	not provided	2023-01-01	criteria provided, single submitter	clinical testing	SLC25A46: PM4:Supporting
GeneDx	RCV001356125	SCV005377380	uncertain significance	not provided	2024-04-18	criteria provided, single submitter	clinical testing	Identified in an individual with late onset spinocerebellar ataxia in whom a second SLC25A46 variant was not identified (PMID: 34445196); Identified in an individual with hereditary motor neuropathy in whom a second SLC25A46 variant was not identified (PMID: 31847883); In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; In-frame insertion of 1 amino acid in a non-repeat region; This variant is associated with the following publications: (PMID: 36920900, 34445196, 31847883)
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	RCV001644735	SCV001519310	likely pathogenic	Spastic ataxia	2021-07-12	flagged submission	research
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001356125	SCV001551198	uncertain significance	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003918083	SCV004728698	likely benign	SLC25A46-related disorder	2022-02-02	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).