ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.796G>A (p.Asp266Asn)

gnomAD frequency: 0.00001  dbSNP: rs779687444
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707463 SCV000836562 uncertain significance Severe myoclonic epilepsy in infancy 2020-06-03 criteria provided, single submitter clinical testing 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: "Benign"; Align-GVGD: "Class C15"). 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. This variant has not been reported in the literature in individuals with SNX27-related disease. This variant is present in population databases (rs779687444, ExAC 0.006%). This sequence change replaces aspartic acid with asparagine at codon 266 of the SNX27 protein (p.Asp266Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine.

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