Submissions for variant NM_001374736.1(DST):c.2125A>G (p.Met709Val)

gnomAD frequency: 0.00039  dbSNP: rs142650835

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000325473	SCV000464312	uncertain significance	Hereditary sensory and autonomic neuropathy type 6	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000537633	SCV000654527	likely benign	Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency	2024-12-12	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001509275	SCV001715894	uncertain significance	not provided	2020-06-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002418212	SCV002720421	uncertain significance	Inborn genetic diseases	2023-11-16	criteria provided, single submitter	clinical testing	Unlikely to be causative of DST-related sensory and autonomic neuropathy (AR) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx	RCV001509275	SCV003935320	uncertain significance	not provided	2024-06-05	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
PreventionGenetics, part of Exact Sciences	RCV004755899	SCV005343700	likely benign	DST-related disorder	2024-04-24	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).