Submissions for variant NM_001374736.1(DST):c.2042G>A (p.Arg681His)

gnomAD frequency: 0.00058  dbSNP: rs143101723

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000382365	SCV000464313	uncertain significance	Hereditary sensory and autonomic neuropathy type 6	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000522851	SCV000617987	uncertain significance	not provided	2024-11-08	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Reported using the transcript encoding the epithelial isoform of the gene
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086062	SCV000654519	benign	Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency	2024-01-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002411249	SCV002719312	likely benign	Inborn genetic diseases	2019-10-01	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.
PreventionGenetics, part of Exact Sciences	RCV003950270	SCV004764434	benign	DST-related disorder	2020-01-13	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).