ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.1084G>A (p.Gly362Arg)

gnomAD frequency: 0.00002  dbSNP: rs751565672
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806983 SCV000947007 uncertain significance CHARGE association 2018-08-09 criteria provided, single submitter clinical testing 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 sequence change replaces glycine with arginine at codon 362 of the SEMA3E protein (p.Gly362Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs751565672, ExAC 0.02%). This variant has not been reported in the literature in individuals with SEMA3E-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: "Benign"; Align-GVGD: "Class C15").

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