ClinVar Miner

Submissions for variant NM_001330723.2(SNX27):c.1024T>G (p.Tyr342Asp)

gnomAD frequency: 0.00001  dbSNP: rs1177213865
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001295054 SCV001483963 uncertain significance Severe myoclonic epilepsy in infancy 2020-07-30 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with aspartic acid at codon 342 of the SNX27 protein (p.Tyr342Asp). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SNX27-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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