ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) (rs767864243)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000202814 SCV000258207 uncertain significance not specified 2015-06-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000248956 SCV000319646 pathogenic Cardiovascular phenotype 2015-05-08 criteria provided, single submitter clinical testing The p.R105C pathogenic mutation (also known as c.313C>T), located in coding exon 2 of the SLC2A10 gene, results from a C to T substitution at nucleotide position 313. The arginine at codon 105 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant has been described in a consanguineous Saudi Arabian family in which one individual was affected with arterial tortuosity syndrome (ATS). The affected individual was homozygous for the variant and both of his unaffected parents were confirmed to be heterozygous (Faiyaz-Ul-Haque M et al. Atherosclerosis 2009;203(2):466-71). This alteration has also been reported in a second individual with ATS in the compound heterozygous state with the recurrent SLC2A10 nonsense mutation p.G445Efs*40 (Hardin JS et al. Ophthalmic Genet. 2018;39:29-34). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.
Invitae RCV000202447 SCV000644163 uncertain significance Arterial tortuosity syndrome 2017-01-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 105 of the SLC2A10 protein (p.Arg105Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs767864243, ExAC 0.02%). This variant has been reported in the homozygous state in an individual affected with arterial tortuosity syndrome (PMID: 18774132). ClinVar contains an entry for this variant (Variation ID: 161104). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000997782 SCV001153486 likely pathogenic not provided 2019-05-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000202447 SCV001521671 uncertain significance Arterial tortuosity syndrome 2019-12-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneReviews RCV000202447 SCV000195658 pathogenic Arterial tortuosity syndrome 2014-09-10 no assertion criteria provided literature only

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