ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1571G>A (p.Arg524Lys)

gnomAD frequency: 0.00012  dbSNP: rs370141550
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196153 SCV000250730 uncertain significance not provided 2016-12-06 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SLC2A10 gene. The R524K variant has not been published as pathogenic or been reported as benign to our knowledge. Though it has been identified in multiple individuals referred for Marfan/TAAD genetic testing at GeneDx, none of these individuals were homozygous or compound heterozygous for variants in SLC2A10. This variant has been observed in approximately 0.02% of alleles from individuals of European ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R524K variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Furthermore, this substitution occurs at a position that is not conserved across species, and in silico analysis predicts this variant likely does not alter the protein structure/function.
Ambry Genetics RCV002315622 SCV000739646 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-01-16 criteria provided, single submitter clinical testing The p.R524K variant (also known as c.1571G>A), located in coding exon 5 of the SLC2A10 gene, results from a G to A substitution at nucleotide position 1571. The arginine at codon 524 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is not well conserved on limited sequence alignment. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000800770 SCV000940502 likely benign Arterial tortuosity syndrome 2024-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000196153 SCV002544633 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing SLC2A10: BP4
PreventionGenetics, part of Exact Sciences RCV003417710 SCV004117295 uncertain significance SLC2A10-related condition 2023-03-24 criteria provided, single submitter clinical testing The SLC2A10 c.1571G>A variant is predicted to result in the amino acid substitution p.Arg524Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.022% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-45362418-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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