Submissions for variant NM_030777.4(SLC2A10):c.1A>G (p.Met1Val)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002835072	SCV003221919	pathogenic	Arterial tortuosity syndrome	2022-07-14	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SLC2A10 protein in which other variant(s) (p.Ser81Arg) have been determined to be pathogenic (PMID: 16550171, 18565096). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with SLC2A10-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects the initiator methionine of the SLC2A10 mRNA. The next in-frame methionine is located at codon 117.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV002835072	SCV004806685	uncertain significance	Arterial tortuosity syndrome	2024-03-26	criteria provided, single submitter	clinical testing