Submissions for variant NM_006946.4(SPTBN2):c.157+5G>A

gnomAD frequency: 0.00081  dbSNP: rs150159444

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000713027	SCV000227397	uncertain significance	not provided	2015-03-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000612761	SCV000373435	likely benign	Spinocerebellar ataxia type 5	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000612761	SCV000744913	likely benign	Spinocerebellar ataxia type 5	2016-06-27	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713027	SCV000843594	benign	not provided	2018-02-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000713027	SCV001059597	likely benign	not provided	2023-11-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001103772	SCV001260579	uncertain significance	Autosomal recessive spinocerebellar ataxia 14	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Institute of Human Genetics, University of Leipzig Medical Center	RCV000612761	SCV001440076	uncertain significance	Spinocerebellar ataxia type 5	2019-01-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000713027	SCV002072670	uncertain significance	not provided	2024-09-28	criteria provided, single submitter	clinical testing	In silico analysis indicates that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen	RCV000713027	SCV005041591	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	SPTBN2: BP4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000612761	SCV000733093	likely benign	Spinocerebellar ataxia type 5		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004752774	SCV005346053	likely benign	SPTBN2-related disorder	2024-06-02	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).