ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys) (rs763220502)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000202526 SCV000822280 pathogenic Arterial tortuosity syndrome 2018-03-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 437 of the SLC2A10 protein (p.Glu437Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs763220502, ExAC 0.01%). This variant has been reported as homozygous or compound heterozygous in individuals affected with arterial tortuosity syndrome (PMID:25373504, 17163528, 26376865, 17935213). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 161100). 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 and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000997785 SCV001153491 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000997785 SCV001778447 likely pathogenic not provided 2020-09-08 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26376865, 28655553, 17163528, 25373504, 17935213)
GeneReviews RCV000202526 SCV000195654 pathogenic Arterial tortuosity syndrome 2014-09-10 no assertion criteria provided literature only

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