ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.475G>T (p.Gly159Cys)

gnomAD frequency: 0.00001  dbSNP: rs761947206
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585578 SCV000693057 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001853956 SCV002193021 uncertain significance Arterial tortuosity syndrome 2022-11-08 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 159 of the SLC2A10 protein (p.Gly159Cys). This variant is present in population databases (rs761947206, gnomAD 0.006%). 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: 493323). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SLC2A10 protein function. 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000585578 SCV001551013 uncertain significance not provided no assertion criteria provided clinical testing

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