ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.446A>G (p.Tyr149Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043336 SCV001207070 uncertain significance CHARGE association 2019-12-18 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 149 of the SEMA3E protein (p.Tyr149Cys). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs775302619, ExAC 0.001%). This variant has not been reported in the literature in individuals with SEMA3E-related conditions. 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: Tolerated; PolyPhen-2: Possibly 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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