Submissions for variant NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln)

gnomAD frequency: 0.00028  dbSNP: rs764407421

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000306514	SCV000373362	uncertain significance	Autosomal dominant cerebellar ataxia	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000523983	SCV000620040	uncertain significance	not provided	2019-09-27	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic	RCV000660459	SCV000782552	uncertain significance	Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14	2016-12-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000523983	SCV001564037	likely benign	not provided	2024-10-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003258752	SCV003945238	likely benign	Inborn genetic diseases	2023-03-17	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.