Submissions for variant NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)

dbSNP: rs80358230

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000498947	SCV000589588	pathogenic	not provided	2022-11-17	criteria provided, single submitter	clinical testing	Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31203799, 34426522, 16550171, 24123366, 25373504, 30090112, 18774132, 31625567, 35302653, 36011280, 18565096)
Invitae	RCV000004850	SCV000952040	pathogenic	Arterial tortuosity syndrome	2023-02-16	criteria provided, single submitter	clinical testing	This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 81 of the SLC2A10 protein (p.Ser81Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with arterial tortuosity syndrome (PMID: 16550171, 18565096). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 4588). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SLC2A10 protein function. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics	RCV000004850	SCV001521670	pathogenic	Arterial tortuosity syndrome	2020-06-15	criteria provided, single submitter	clinical testing	This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Provincial Medical Genetics Program of British Columbia, University of British Columbia	RCV000004850	SCV002320826	likely pathogenic	Arterial tortuosity syndrome	2022-01-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003914808	SCV004728776	pathogenic	SLC2A10-related disorder	2023-11-05	criteria provided, single submitter	clinical testing	The SLC2A10 c.243C>G variant is predicted to result in the amino acid substitution p.Ser81Arg. This variant has been reported to be pathogenic for arterial tortuosity syndrome (Coucke et al. 2006. PubMed ID: 16550171; Rodriguez-Flores et al. 2014. PubMed ID: 24123366; Faiyaz-Ul-Haque et al. 2009. PubMed ID: 18774132). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000004850	SCV004805143	pathogenic	Arterial tortuosity syndrome	2024-03-17	criteria provided, single submitter	research
OMIM	RCV000004850	SCV000025026	pathogenic	Arterial tortuosity syndrome	2008-08-01	no assertion criteria provided	literature only
GeneReviews	RCV000004850	SCV000195645	not provided	Arterial tortuosity syndrome		no assertion provided	literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000004850	SCV001133152	likely pathogenic	Arterial tortuosity syndrome	2019-09-26	no assertion criteria provided	clinical testing