ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1274T>C (p.Phe425Ser)

gnomAD frequency: 0.00001  dbSNP: rs546176728
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248432 SCV000319251 uncertain significance Cardiovascular phenotype 2014-03-19 criteria provided, single submitter clinical testing The p.F425S variant (also known as c.1274T>C), located in coding exon 2 of the SLC2A10 gene, results from a T to C substitution at nucleotide position 1274. The phenylalanine at codon 425 is replaced by serine, an amino acid with highly dissimilar properties. This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. Based on protein sequence alignment, this amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be benign by PolyPhen but deleterious by SIFT in silico analyses. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV000689753 SCV000817419 uncertain significance Arterial tortuosity syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 425 of the SLC2A10 protein (p.Phe425Ser). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is present in population databases (rs546176728, ExAC 0.002%). 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: 263824). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798752 SCV002043613 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-03-18 criteria provided, single submitter clinical testing

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