Submissions for variant NM_080669.6(SLC46A1):c.294C>A (p.Leu98=)

gnomAD frequency: 0.00110  dbSNP: rs371270310

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000318062	SCV000401464	likely benign	Congenital defect of folate absorption	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000318062	SCV000743643	likely benign	Congenital defect of folate absorption	2017-01-03	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000318062	SCV000744969	likely benign	Congenital defect of folate absorption	2017-09-04	criteria provided, single submitter	clinical testing
Invitae	RCV000884207	SCV001027565	likely benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing