Submissions for variant NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met)

gnomAD frequency: 0.38895  dbSNP: rs3207090

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000330210	SCV000353975	benign	Posterior column ataxia-retinitis pigmentosa syndrome	2018-01-13	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000330210	SCV000744819	benign	Posterior column ataxia-retinitis pigmentosa syndrome	2015-09-21	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000992006	SCV001143952	benign	not provided	2019-07-15	criteria provided, single submitter	clinical testing
Invitae	RCV000992006	SCV001721091	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000330210	SCV001933525	benign	Posterior column ataxia-retinitis pigmentosa syndrome	2021-08-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117088	SCV000151230	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000330210	SCV000733985	benign	Posterior column ataxia-retinitis pigmentosa syndrome		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000117088	SCV001923316	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000117088	SCV001953395	benign	not specified		no assertion criteria provided	clinical testing