Submissions for variant NM_018319.4(TDP1):c.1165G>A (p.Ala389Thr)

gnomAD frequency: 0.00178  dbSNP: rs138044459

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000736052	SCV000864263	likely benign	not specified	2017-05-15	criteria provided, single submitter	clinical testing	BS1, BP4; This alteration has an allele frequency that is greater than expected for the associated disease, and is predicted to be tolerated by multiple functional prediction tools.
Athena Diagnostics	RCV000993294	SCV001146142	likely benign	not provided	2019-02-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001121475	SCV001280091	benign	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	2017-05-30	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Breakthrough Genomics, Breakthrough Genomics	RCV000993294	SCV005217855	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003947958	SCV004758393	likely benign	TDP1-related disorder	2019-11-18	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).