ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1351T>G (p.Cys451Gly)

gnomAD frequency: 0.00003  dbSNP: rs199599532
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233181 SCV000290945 uncertain significance Arterial tortuosity syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces cysteine with glycine at codon 451 of the SLC2A10 protein (p.Cys451Gly). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and glycine. This variant is present in population databases (rs199599532, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with SLC2A10-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002381674 SCV002693101 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-10-11 criteria provided, single submitter clinical testing The p.C451G variant (also known as c.1351T>G), located in coding exon 3 of the SLC2A10 gene, results from a T to G substitution at nucleotide position 1351. The cysteine at codon 451 is replaced by glycine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000233181 SCV004563691 uncertain significance Arterial tortuosity syndrome 2023-10-27 criteria provided, single submitter clinical testing The SLC2A10 c.1351T>G; p.Cys451Gly variant (rs199599532), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 213736). This variant is found in the general population with an overall allele frequency of 0.004% (11/251,490 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.553). Due to limited information, the clinical significance of this variant is uncertain at this time.

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