ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.170G>T (p.Gly57Val)

gnomAD frequency: 0.00001  dbSNP: rs369796310
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001218368 SCV001390248 uncertain significance Arterial tortuosity syndrome 2022-03-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 57 of the SLC2A10 protein (p.Gly57Val). This variant is present in population databases (rs369796310, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SLC2A10-related conditions. ClinVar contains an entry for this variant (Variation ID: 947313). 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) performed at Invitae indicates that this missense variant is expected to disrupt SLC2A10 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV003148948 SCV003837175 uncertain significance not provided 2023-03-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003380894 SCV004098247 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-09-01 criteria provided, single submitter clinical testing The p.G57V variant (also known as c.170G>T), located in coding exon 2 of the SLC2A10 gene, results from a G to T substitution at nucleotide position 170. The glycine at codon 57 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001218368 SCV005876056 uncertain significance Arterial tortuosity syndrome 2024-01-18 criteria provided, single submitter clinical testing The SLC2A10 c.170G>T; p.Gly57Val variant (rs369796310), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 947313). This variant is only observed on four alleles in the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. Computational analyses predict that this variant is deleterious (REVEL: 0.783). Due to limited information, the clinical significance of this variant is uncertain at this time.

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