ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.65T>G (p.Phe22Cys)

dbSNP: rs1060502313
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462934 SCV000549184 uncertain significance Arterial tortuosity syndrome 2016-10-01 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with cysteine at codon 22 of the SLC2A10 protein (p.Phe22Cys). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and cysteine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SLC2A10-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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