Submissions for variant NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu)

gnomAD frequency: 0.00001  dbSNP: rs121909744

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	RCV000017475	SCV001438865	likely pathogenic	Fanconi-Bickel syndrome		criteria provided, single submitter	clinical testing
3billion, Medical Genetics	RCV000017475	SCV002572710	pathogenic	Fanconi-Bickel syndrome	2022-09-01	criteria provided, single submitter	clinical testing	The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.001%). Shared with similarly affected family member (3billion dataset). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.82; 3Cnet: 0.86). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000016095). The variant has been reported to co-segregate with the disease in at least 5 similarly affected relatives/individuals in the same family or similarly affected unrelated family (PMID: 10987651). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV000017475	SCV004806209	pathogenic	Fanconi-Bickel syndrome	2024-03-25	criteria provided, single submitter	clinical testing
OMIM	RCV000017475	SCV000037747	pathogenic	Fanconi-Bickel syndrome	1999-09-01	no assertion criteria provided	literature only