ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) (rs80358230)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498947 SCV000589588 likely pathogenic not provided 2018-11-12 criteria provided, single submitter clinical testing The S81R variant in the SLC2A10 gene has been reported previously in the homozygous state in individuals with arterial tortuosity syndrome, and is described as a founder mutation in individuals from the Bedouin tribe from Qatar (Coucke et al., 2006; Faiyaz-Ul-Haque et al., 2008). The S81R variant is not observed in large population cohorts (Lek et al., 2016); however, this variant has been observed in the homozygous state in a few reportedly unaffected individuals tested at GeneDx. The S81R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret S81R as a likely pathogenic variant.
GeneReviews RCV000004850 SCV000195645 pathogenic Arterial tortuosity syndrome 2014-09-10 no assertion criteria provided literature only
Invitae RCV000004850 SCV000952040 pathogenic Arterial tortuosity syndrome 2018-08-10 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 81 of the SLC2A10 protein (p.Ser81Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with arterial tortuosity syndrome in several families (PMID: 16550171, 18565096). ClinVar contains an entry for this variant (Variation ID: 4588). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004850 SCV000025026 pathogenic Arterial tortuosity syndrome 2008-08-01 no assertion criteria provided literature only

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