ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1792G>A (p.Gly598Arg) (rs886063347)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000295825 SCV000476574 uncertain significance Familial dysautonomia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000295825 SCV000553444 uncertain significance Familial dysautonomia 2018-10-09 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 598 of the IKBKAP protein (p.Gly598Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a IKBKAP-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: "Tolerated"; 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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