ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.602G>A (p.Arg201Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816184 SCV000956679 uncertain significance Familial dysautonomia 2018-09-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 201 of the IKBKAP protein (p.Arg201Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs367552387, ExAC 0.002%). This variant has not been reported in the literature in individuals with IKBKAP-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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